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Gene id

348

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

APOE Gene UCSC Ensembl

Aliases

AD2, APO-E, ApoE4, LDLCQ5, LPG

Gene name

apolipoprotein E

Alternate names

apolipoprotein E, apolipoprotein E3,

Gene location

19q13.32 (44905748: 44909394) Exons: 6 NC_000019.10

Gene summary(Entrez)

The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene 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, Jun 2016]

OMIM

107741

SNPs

rs1065780

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000669.2   g.45888078G>A
NC_000007.13   g.45927677G>A
NC_000007.14   g.45888078G>A
NM_000596.2   c.-575G>A
NM_000596.3   c.-575G>A
rs405509

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000681.2   g.44905579T>G
NC_000019.10   g.44905579T=
NC_000019.10   g.44905579T>G
NC_000019.9   g.45408836T=
NC_000019.9   g.45408836T>G
NG_007084.2   g.4798T=
NG_007084.2   g.4798T>G
NG_042854.1   g.19360T=
NG_042854.1   g.19360T>G
NM_000041.3   c.-286T=
NM_000041.3   c.-286T>G
NM_001302688.1   c.-290T=
NM_001302688.1   c.-290T>G
NM_001302689.1   c.-489T=
NM_001302689.1   c.-489T>G
NM_001302690.1   c.-969T=
NM_001302690.1   c.-969T>G
NM_001302691.1   c.-301T=
NM_001302691.1   c.-301T>G
Clinical Significance: other

rs429358

Strand:    Allele origin: T(germline)/C(germline)  Allele change: C/T   Mutation type: snp

CM000681.2   g.44908684T>C
NC_000019.10   g.44908684T>C
NC_000019.9   g.45411941T>C
NG_007084.2   g.7903T>C
NM_000041.3   c.388T>C
NM_001302688.1   c.466T>C
NM_001302689.1   c.388T>C
NM_001302690.1   c.388T>C
NM_001302691.1   c.388T>C
NP_000032.1   p.Cys130Arg
NP_001289617.1   p.Cys156Arg
NP_001289618.1   p.Cys130Arg
NP_001289619.1   p.Cys130Arg
NP_001289620.1   p.Cys130Arg
XP_005258924.1   p.Cys156Arg
XP_005258925.1   p.Cys130Arg
Clinical Significance: Pathogenic

rs680

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000673.2   g.2132404T>C
NC_000011.10   g.2132404T>C
NC_000011.9   g.2153634T>C
NC_000011.9   g.2153634T>G
NG_008849.1   g.22200A>C
NG_008849.1   g.22200A>G
NG_050578.1   g.33806A>C
NG_050578.1   g.33806A>G
NM_000612.5   c.*583A>C
NM_000612.5   c.*583A>G
NM_001007139.5   c.*583A>C
NM_001007139.5   c.*583A>G
NM_001127598.2   c.*583A>C
NM_001127598.2   c.*583A>G
NM_001291861.2   c.*583A>C
NM_001291861.2   c.*583A>G
NM_001291862.2   c.*583A>C
NM_001291862.2   c.*583A>G
NR_003512.3   n.1840A>C
NR_003512.3   n.1840A>G
rs7412

Strand:    Allele origin: T(germline)/C(germline)  Allele change: C/T   Mutation type: snp

CM000681.2   g.44908822C>T
NC_000019.10   g.44908822C>T
NC_000019.9   g.45412079C>T
NG_007084.2   g.8041C>T
NM_000041.3   c.526C>T
NM_001302688.1   c.604C>T
NM_001302689.1   c.526C>T
NM_001302690.1   c.526C>T
NM_001302691.1   c.526C>T
NP_000032.1   p.Arg176Cys
NP_001289617.1   p.Arg202Cys
NP_001289618.1   p.Arg176Cys
NP_001289619.1   p.Arg176Cys
NP_001289620.1   p.Arg176Cys
XP_005258924.1   p.Arg202Cys
XP_005258925.1   p.Arg176Cys
Clinical Significance: Pathogenic

Protein Summary

Protein general information

P02649

Name: Apolipoprotein E (Apo E)

Length: 317 Mass: 36,154

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, br

Sequence

MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVT
QELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEE
LRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERA
QAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKSWFEPLVEDMQRQWAGLVEK
VQAAVGTSAAPVPSDNH

Structural information

Interpro:	IPR000074
Pfam:	PF01442
PDB:	1B68 1BZ4 1EA8 1GS9 1H7I 1LE2 1LE4 1LPE 1NFN 1NFO 1OEF 1OEG 1OR2 1OR3 2KC3 2KNY 2L7B
PDBsum:	1B68 1BZ4 1EA8 1GS9 1H7I 1LE2 1LE4 1LPE 1NFN 1NFO 1OEF 1OEG 1OR2 1OR3 2KC3 2KNY 2L7B
DIP:	1120
MINT:	4999641
STRING:	ENSP00000252486;

Other Databases

GeneCards: APOE; Malacards: APOE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000302	response to reactive oxyg en species	NAS	biological_process
GO:0001523	retinoid metabolic proces s	TAS	biological_process
GO:0001540	beta-amyloid binding	IDA	molecular_function
GO:0001937	negative regulation of en dothelial cell proliferat ion	IDA	biological_process
GO:0002021	response to dietary exces s	IEA	biological_process
GO:0005319	lipid transporter activit y	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005543	phospholipid binding	IDA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	NAS	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005769	early endosome	TAS	cellular_component
GO:0005769	early endosome	TAS	cellular_component
GO:0005769	early endosome	TAS	cellular_component
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006641	triglyceride metabolic pr ocess	IMP	biological_process
GO:0006641	triglyceride metabolic pr ocess	IDA	biological_process
GO:0006707	cholesterol catabolic pro cess	IBA	biological_process
GO:0006874	cellular calcium ion home ostasis	IEA	biological_process
GO:0006898	receptor-mediated endocyt osis	IDA	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0007010	cytoskeleton organization	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007263	nitric oxide mediated sig nal transduction	IDA	biological_process
GO:0007271	synaptic transmission, ch olinergic	TAS	biological_process
GO:0008201	heparin binding	IDA	molecular_function
GO:0008203	cholesterol metabolic pro cess	IMP	biological_process
GO:0008203	cholesterol metabolic pro cess	IDA	biological_process
GO:0008289	lipid binding	IDA	molecular_function
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0010544	negative regulation of pl atelet activation	IDA	biological_process
GO:0010873	positive regulation of ch olesterol esterification	IDA	biological_process
GO:0010875	positive regulation of ch olesterol efflux	IDA	biological_process
GO:0010875	positive regulation of ch olesterol efflux	IGI	biological_process
GO:0010875	positive regulation of ch olesterol efflux	IDA	biological_process
GO:0015485	cholesterol binding	IBA	molecular_function
GO:0015909	long-chain fatty acid tra nsport	IDA	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0016209	antioxidant activity	IDA	molecular_function
GO:0017038	protein import	IDA	biological_process
GO:0017127	cholesterol transporter a ctivity	IBA	molecular_function
GO:0019068	virion assembly	IMP	biological_process
GO:0019433	triglyceride catabolic pr ocess	IBA	biological_process
GO:0019934	cGMP-mediated signaling	IDA	biological_process
GO:0030195	negative regulation of bl ood coagulation	IDA	biological_process
GO:0030425	dendrite	NAS	cellular_component
GO:0030516	regulation of axon extens ion	TAS	biological_process
GO:0030828	positive regulation of cG MP biosynthetic process	IDA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031102	neuron projection regener ation	IBA	biological_process
GO:0032489	regulation of Cdc42 prote in signal transduction	IDA	biological_process
GO:0032805	positive regulation of lo w-density lipoprotein par ticle receptor catabolic process	IDA	biological_process
GO:0033344	cholesterol efflux	IDA	biological_process
GO:0033344	cholesterol efflux	IDA	biological_process
GO:0033700	phospholipid efflux	IDA	biological_process
GO:0034361	very-low-density lipoprot ein particle	IDA	cellular_component
GO:0034361	very-low-density lipoprot ein particle	IDA	cellular_component
GO:0034362	low-density lipoprotein p article	IDA	cellular_component
GO:0034363	intermediate-density lipo protein particle	IDA	cellular_component
GO:0034364	high-density lipoprotein particle	IDA	cellular_component
GO:0034372	very-low-density lipoprot ein particle remodeling	IGI	biological_process
GO:0034372	very-low-density lipoprot ein particle remodeling	IDA	biological_process
GO:0034374	low-density lipoprotein p article remodeling	IEA	biological_process
GO:0034375	high-density lipoprotein particle remodeling	IGI	biological_process
GO:0034380	high-density lipoprotein particle assembly	IDA	biological_process
GO:0034382	chylomicron remnant clear ance	IMP	biological_process
GO:0034384	high-density lipoprotein particle clearance	IDA	biological_process
GO:0034447	very-low-density lipoprot ein particle clearance	IDA	biological_process
GO:0034447	very-low-density lipoprot ein particle clearance	IMP	biological_process
GO:0042157	lipoprotein metabolic pro cess	TAS	biological_process
GO:0042157	lipoprotein metabolic pro cess	TAS	biological_process
GO:0042158	lipoprotein biosynthetic process	IEA	biological_process
GO:0042159	lipoprotein catabolic pro cess	IBA	biological_process
GO:0042159	lipoprotein catabolic pro cess	TAS	biological_process
GO:0042311	vasodilation	IEA	biological_process
GO:0042627	chylomicron	IDA	cellular_component
GO:0042627	chylomicron	IDA	cellular_component
GO:0042632	cholesterol homeostasis	IDA	biological_process
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043025	neuronal cell body	NAS	cellular_component
GO:0043407	negative regulation of MA P kinase activity	IDA	biological_process
GO:0043524	negative regulation of ne uron apoptotic process	IBA	biological_process
GO:0043537	negative regulation of bl ood vessel endothelial ce ll migration	IDA	biological_process
GO:0043691	reverse cholesterol trans port	IDA	biological_process
GO:0044794	positive regulation by ho st of viral process	IMP	biological_process
GO:0045541	negative regulation of ch olesterol biosynthetic pr ocess	IDA	biological_process
GO:0046889	positive regulation of li pid biosynthetic process	IDA	biological_process
GO:0046907	intracellular transport	TAS	biological_process
GO:0046911	metal chelating activity	IDA	molecular_function
GO:0048156	tau protein binding	IPI	molecular_function
GO:0048168	regulation of neuronal sy naptic plasticity	TAS	biological_process
GO:0048844	artery morphogenesis	IEA	biological_process
GO:0050728	negative regulation of in flammatory response	IC	biological_process
GO:0050750	low-density lipoprotein p article receptor binding	IPI	molecular_function
GO:0050750	low-density lipoprotein p article receptor binding	IDA	molecular_function
GO:0051000	positive regulation of ni tric-oxide synthase activ ity	IDA	biological_process
GO:0051044	positive regulation of me mbrane protein ectodomain proteolysis	IDA	biological_process
GO:0051055	negative regulation of li pid biosynthetic process	IDA	biological_process
GO:0051651	maintenance of location i n cell	IEA	biological_process
GO:0055089	fatty acid homeostasis	IDA	biological_process
GO:0060228	phosphatidylcholine-stero l O-acyltransferase activ ator activity	IDA	molecular_function
GO:0060999	positive regulation of de ndritic spine development	IDA	biological_process
GO:0061000	negative regulation of de ndritic spine development	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070326	very-low-density lipoprot ein particle receptor bin ding	IPI	molecular_function
GO:0070326	very-low-density lipoprot ein particle receptor bin ding	IDA	molecular_function
GO:0071682	endocytic vesicle lumen	TAS	cellular_component
GO:0071813	lipoprotein particle bind ing	IEA	molecular_function
GO:0072562	blood microparticle	IDA	cellular_component
GO:0090090	negative regulation of ca nonical Wnt signaling pat hway	TAS	biological_process
GO:0090370	negative regulation of ch olesterol efflux	IDA	biological_process
GO:0097113	AMPA glutamate receptor c lustering	IDA	biological_process
GO:0097114	NMDA glutamate receptor c lustering	IDA	biological_process
GO:0098869	cellular oxidant detoxifi cation	IEA	biological_process
GO:1900221	regulation of beta-amyloi d clearance	IDA	biological_process
GO:1901214	regulation of neuron deat h	IDA	biological_process
GO:1901215	negative regulation of ne uron death	IDA	biological_process
GO:1901216	positive regulation of ne uron death	IDA	biological_process
GO:1901627	negative regulation of po stsynaptic membrane organ ization	IDA	biological_process
GO:1901628	positive regulation of po stsynaptic membrane organ ization	IDA	biological_process
GO:1901630	negative regulation of pr esynaptic membrane organi zation	IDA	biological_process
GO:1901631	positive regulation of pr esynaptic membrane organi zation	IDA	biological_process
GO:1902004	positive regulation of be ta-amyloid formation	IDA	biological_process
GO:1902004	positive regulation of be ta-amyloid formation	IDA	biological_process
GO:1902430	negative regulation of be ta-amyloid formation	IDA	biological_process
GO:1902430	negative regulation of be ta-amyloid formation	IDA	biological_process
GO:1902947	regulation of tau-protein kinase activity	IDA	biological_process
GO:1902951	negative regulation of de ndritic spine maintenance	IDA	biological_process
GO:1902952	positive regulation of de ndritic spine maintenance	IDA	biological_process
GO:1902995	positive regulation of ph ospholipid efflux	IDA	biological_process
GO:1902998	positive regulation of ne urofibrillary tangle asse mbly	IDA	biological_process
GO:1902999	negative regulation of ph ospholipid efflux	IDA	biological_process
GO:1903001	negative regulation of li pid transport across bloo d brain barrier	IDA	biological_process
GO:1903002	positive regulation of li pid transport across bloo d brain barrier	IDA	biological_process
GO:1903561	extracellular vesicle	IDA	cellular_component
GO:0000302	response to reactive oxyg en species	NAS	biological_process
GO:0001523	retinoid metabolic proces s	TAS	biological_process
GO:0001540	beta-amyloid binding	IDA	molecular_function
GO:0001937	negative regulation of en dothelial cell proliferat ion	IDA	biological_process
GO:0002021	response to dietary exces s	IEA	biological_process
GO:0005319	lipid transporter activit y	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005543	phospholipid binding	IDA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	NAS	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005769	early endosome	TAS	cellular_component
GO:0005769	early endosome	TAS	cellular_component
GO:0005769	early endosome	TAS	cellular_component
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006641	triglyceride metabolic pr ocess	IMP	biological_process
GO:0006641	triglyceride metabolic pr ocess	IDA	biological_process
GO:0006707	cholesterol catabolic pro cess	IEA	biological_process
GO:0006707	cholesterol catabolic pro cess	IBA	biological_process
GO:0006810	transport	IEA	biological_process
GO:0006869	lipid transport	IEA	biological_process
GO:0006869	lipid transport	IEA	biological_process
GO:0006874	cellular calcium ion home ostasis	IEA	biological_process
GO:0006898	receptor-mediated endocyt osis	IDA	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0006979	response to oxidative str ess	IEA	biological_process
GO:0007010	cytoskeleton organization	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007263	nitric oxide mediated sig nal transduction	IDA	biological_process
GO:0007271	synaptic transmission, ch olinergic	TAS	biological_process
GO:0008201	heparin binding	IEA	molecular_function
GO:0008201	heparin binding	IDA	molecular_function
GO:0008202	steroid metabolic process	IEA	biological_process
GO:0008203	cholesterol metabolic pro cess	IEA	biological_process
GO:0008203	cholesterol metabolic pro cess	IEA	biological_process
GO:0008203	cholesterol metabolic pro cess	IMP	biological_process
GO:0008203	cholesterol metabolic pro cess	IDA	biological_process
GO:0008289	lipid binding	IEA	molecular_function
GO:0008289	lipid binding	IDA	molecular_function
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0010544	negative regulation of pl atelet activation	IDA	biological_process
GO:0010873	positive regulation of ch olesterol esterification	IEA	biological_process
GO:0010873	positive regulation of ch olesterol esterification	IDA	biological_process
GO:0010875	positive regulation of ch olesterol efflux	IDA	biological_process
GO:0010875	positive regulation of ch olesterol efflux	IGI	biological_process
GO:0010875	positive regulation of ch olesterol efflux	IDA	biological_process
GO:0015485	cholesterol binding	IBA	molecular_function
GO:0015909	long-chain fatty acid tra nsport	IDA	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0016209	antioxidant activity	IDA	molecular_function
GO:0017038	protein import	IDA	biological_process
GO:0017127	cholesterol transporter a ctivity	IEA	molecular_function
GO:0017127	cholesterol transporter a ctivity	IBA	molecular_function
GO:0019068	virion assembly	IMP	biological_process
GO:0019433	triglyceride catabolic pr ocess	IBA	biological_process
GO:0019934	cGMP-mediated signaling	IDA	biological_process
GO:0030195	negative regulation of bl ood coagulation	IDA	biological_process
GO:0030425	dendrite	NAS	cellular_component
GO:0030516	regulation of axon extens ion	TAS	biological_process
GO:0030828	positive regulation of cG MP biosynthetic process	IDA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031102	neuron projection regener ation	IBA	biological_process
GO:0032489	regulation of Cdc42 prote in signal transduction	IDA	biological_process
GO:0032805	positive regulation of lo w-density lipoprotein par ticle receptor catabolic process	IDA	biological_process
GO:0033344	cholesterol efflux	IEA	biological_process
GO:0033344	cholesterol efflux	IDA	biological_process
GO:0033344	cholesterol efflux	IDA	biological_process
GO:0033700	phospholipid efflux	IDA	biological_process
GO:0034361	very-low-density lipoprot ein particle	IEA	cellular_component
GO:0034361	very-low-density lipoprot ein particle	IDA	cellular_component
GO:0034361	very-low-density lipoprot ein particle	IDA	cellular_component
GO:0034362	low-density lipoprotein p article	IEA	cellular_component
GO:0034362	low-density lipoprotein p article	IDA	cellular_component
GO:0034363	intermediate-density lipo protein particle	IDA	cellular_component
GO:0034364	high-density lipoprotein particle	IEA	cellular_component
GO:0034364	high-density lipoprotein particle	IDA	cellular_component
GO:0034372	very-low-density lipoprot ein particle remodeling	IEA	biological_process
GO:0034372	very-low-density lipoprot ein particle remodeling	IGI	biological_process
GO:0034372	very-low-density lipoprot ein particle remodeling	IDA	biological_process
GO:0034374	low-density lipoprotein p article remodeling	IEA	biological_process
GO:0034375	high-density lipoprotein particle remodeling	IGI	biological_process
GO:0034380	high-density lipoprotein particle assembly	IDA	biological_process
GO:0034382	chylomicron remnant clear ance	IMP	biological_process
GO:0034384	high-density lipoprotein particle clearance	IDA	biological_process
GO:0034447	very-low-density lipoprot ein particle clearance	IDA	biological_process
GO:0034447	very-low-density lipoprot ein particle clearance	IMP	biological_process
GO:0042157	lipoprotein metabolic pro cess	IEA	biological_process
GO:0042157	lipoprotein metabolic pro cess	IEA	biological_process
GO:0042157	lipoprotein metabolic pro cess	TAS	biological_process
GO:0042157	lipoprotein metabolic pro cess	TAS	biological_process
GO:0042158	lipoprotein biosynthetic process	IEA	biological_process
GO:0042159	lipoprotein catabolic pro cess	IEA	biological_process
GO:0042159	lipoprotein catabolic pro cess	IBA	biological_process
GO:0042159	lipoprotein catabolic pro cess	TAS	biological_process
GO:0042311	vasodilation	IEA	biological_process
GO:0042627	chylomicron	IEA	cellular_component
GO:0042627	chylomicron	IDA	cellular_component
GO:0042627	chylomicron	IDA	cellular_component
GO:0042632	cholesterol homeostasis	IEA	biological_process
GO:0042632	cholesterol homeostasis	IDA	biological_process
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043025	neuronal cell body	NAS	cellular_component
GO:0043407	negative regulation of MA P kinase activity	IDA	biological_process
GO:0043524	negative regulation of ne uron apoptotic process	IBA	biological_process
GO:0043537	negative regulation of bl ood vessel endothelial ce ll migration	IDA	biological_process
GO:0043691	reverse cholesterol trans port	IDA	biological_process
GO:0044794	positive regulation by ho st of viral process	IMP	biological_process
GO:0045541	negative regulation of ch olesterol biosynthetic pr ocess	IDA	biological_process
GO:0046889	positive regulation of li pid biosynthetic process	IDA	biological_process
GO:0046907	intracellular transport	TAS	biological_process
GO:0046911	metal chelating activity	IDA	molecular_function
GO:0048156	tau protein binding	IPI	molecular_function
GO:0048168	regulation of neuronal sy naptic plasticity	TAS	biological_process
GO:0048844	artery morphogenesis	IEA	biological_process
GO:0050728	negative regulation of in flammatory response	IEA	biological_process
GO:0050728	negative regulation of in flammatory response	IC	biological_process
GO:0050750	low-density lipoprotein p article receptor binding	IPI	molecular_function
GO:0050750	low-density lipoprotein p article receptor binding	IDA	molecular_function
GO:0051000	positive regulation of ni tric-oxide synthase activ ity	IDA	biological_process
GO:0051044	positive regulation of me mbrane protein ectodomain proteolysis	IDA	biological_process
GO:0051055	negative regulation of li pid biosynthetic process	IDA	biological_process
GO:0051651	maintenance of location i n cell	IEA	biological_process
GO:0055088	lipid homeostasis	IEA	biological_process
GO:0055089	fatty acid homeostasis	IDA	biological_process
GO:0060228	phosphatidylcholine-stero l O-acyltransferase activ ator activity	IEA	molecular_function
GO:0060228	phosphatidylcholine-stero l O-acyltransferase activ ator activity	IDA	molecular_function
GO:0060999	positive regulation of de ndritic spine development	IDA	biological_process
GO:0061000	negative regulation of de ndritic spine development	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070326	very-low-density lipoprot ein particle receptor bin ding	IPI	molecular_function
GO:0070326	very-low-density lipoprot ein particle receptor bin ding	IDA	molecular_function
GO:0071682	endocytic vesicle lumen	TAS	cellular_component
GO:0071813	lipoprotein particle bind ing	IEA	molecular_function
GO:0072358	cardiovascular system dev elopment	IEA	biological_process
GO:0072562	blood microparticle	IDA	cellular_component
GO:0090090	negative regulation of ca nonical Wnt signaling pat hway	TAS	biological_process
GO:0090370	negative regulation of ch olesterol efflux	IDA	biological_process
GO:0097113	AMPA glutamate receptor c lustering	IDA	biological_process
GO:0097114	NMDA glutamate receptor c lustering	IDA	biological_process
GO:0098869	cellular oxidant detoxifi cation	IEA	biological_process
GO:1900221	regulation of beta-amyloi d clearance	IDA	biological_process
GO:1901214	regulation of neuron deat h	IDA	biological_process
GO:1901215	negative regulation of ne uron death	IDA	biological_process
GO:1901216	positive regulation of ne uron death	IDA	biological_process
GO:1901627	negative regulation of po stsynaptic membrane organ ization	IDA	biological_process
GO:1901628	positive regulation of po stsynaptic membrane organ ization	IDA	biological_process
GO:1901630	negative regulation of pr esynaptic membrane organi zation	IDA	biological_process
GO:1901631	positive regulation of pr esynaptic membrane organi zation	IDA	biological_process
GO:1902004	positive regulation of be ta-amyloid formation	IDA	biological_process
GO:1902004	positive regulation of be ta-amyloid formation	IDA	biological_process
GO:1902430	negative regulation of be ta-amyloid formation	IDA	biological_process
GO:1902430	negative regulation of be ta-amyloid formation	IDA	biological_process
GO:1902947	regulation of tau-protein kinase activity	IDA	biological_process
GO:1902951	negative regulation of de ndritic spine maintenance	IDA	biological_process
GO:1902952	positive regulation of de ndritic spine maintenance	IDA	biological_process
GO:1902995	positive regulation of ph ospholipid efflux	IDA	biological_process
GO:1902998	positive regulation of ne urofibrillary tangle asse mbly	IDA	biological_process
GO:1902999	negative regulation of ph ospholipid efflux	IDA	biological_process
GO:1903001	negative regulation of li pid transport across bloo d brain barrier	IDA	biological_process
GO:1903002	positive regulation of li pid transport across bloo d brain barrier	IDA	biological_process
GO:1903561	extracellular vesicle	IDA	cellular_component
GO:0000302	response to reactive oxyg en species	NAS	biological_process
GO:0001523	retinoid metabolic proces s	TAS	biological_process
GO:0001540	beta-amyloid binding	IDA	molecular_function
GO:0001937	negative regulation of en dothelial cell proliferat ion	IDA	biological_process
GO:0005319	lipid transporter activit y	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005543	phospholipid binding	IDA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	NAS	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005769	early endosome	TAS	cellular_component
GO:0005769	early endosome	TAS	cellular_component
GO:0005769	early endosome	TAS	cellular_component
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006641	triglyceride metabolic pr ocess	IMP	biological_process
GO:0006641	triglyceride metabolic pr ocess	IDA	biological_process
GO:0006707	cholesterol catabolic pro cess	IBA	biological_process
GO:0006898	receptor-mediated endocyt osis	IDA	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0006898	receptor-mediated endocyt osis	TAS	biological_process
GO:0007010	cytoskeleton organization	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IDA	biological_process
GO:0007263	nitric oxide mediated sig nal transduction	IDA	biological_process
GO:0007271	synaptic transmission, ch olinergic	TAS	biological_process
GO:0008201	heparin binding	IDA	molecular_function
GO:0008203	cholesterol metabolic pro cess	IMP	biological_process
GO:0008203	cholesterol metabolic pro cess	IDA	biological_process
GO:0008289	lipid binding	IDA	molecular_function
GO:0010544	negative regulation of pl atelet activation	IDA	biological_process
GO:0010873	positive regulation of ch olesterol esterification	IDA	biological_process
GO:0010875	positive regulation of ch olesterol efflux	IDA	biological_process
GO:0010875	positive regulation of ch olesterol efflux	IGI	biological_process
GO:0010875	positive regulation of ch olesterol efflux	IDA	biological_process
GO:0015485	cholesterol binding	IBA	molecular_function
GO:0015909	long-chain fatty acid tra nsport	IDA	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0016209	antioxidant activity	IDA	molecular_function
GO:0017038	protein import	IDA	biological_process
GO:0017127	cholesterol transporter a ctivity	IBA	molecular_function
GO:0019068	virion assembly	IMP	biological_process
GO:0019433	triglyceride catabolic pr ocess	IBA	biological_process
GO:0019934	cGMP-mediated signaling	IDA	biological_process
GO:0030195	negative regulation of bl ood coagulation	IDA	biological_process
GO:0030425	dendrite	NAS	cellular_component
GO:0030516	regulation of axon extens ion	TAS	biological_process
GO:0030828	positive regulation of cG MP biosynthetic process	IDA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031102	neuron projection regener ation	IBA	biological_process
GO:0032489	regulation of Cdc42 prote in signal transduction	IDA	biological_process
GO:0032805	positive regulation of lo w-density lipoprotein par ticle receptor catabolic process	IDA	biological_process
GO:0033344	cholesterol efflux	IDA	biological_process
GO:0033344	cholesterol efflux	IDA	biological_process
GO:0033700	phospholipid efflux	IDA	biological_process
GO:0034361	very-low-density lipoprot ein particle	IDA	cellular_component
GO:0034361	very-low-density lipoprot ein particle	IDA	cellular_component
GO:0034362	low-density lipoprotein p article	IDA	cellular_component
GO:0034363	intermediate-density lipo protein particle	IDA	cellular_component
GO:0034364	high-density lipoprotein particle	IDA	cellular_component
GO:0034372	very-low-density lipoprot ein particle remodeling	IGI	biological_process
GO:0034372	very-low-density lipoprot ein particle remodeling	IDA	biological_process
GO:0034375	high-density lipoprotein particle remodeling	IGI	biological_process
GO:0034380	high-density lipoprotein particle assembly	IDA	biological_process
GO:0034382	chylomicron remnant clear ance	IMP	biological_process
GO:0034384	high-density lipoprotein particle clearance	IDA	biological_process
GO:0034447	very-low-density lipoprot ein particle clearance	IDA	biological_process
GO:0034447	very-low-density lipoprot ein particle clearance	IMP	biological_process
GO:0042157	lipoprotein metabolic pro cess	TAS	biological_process
GO:0042157	lipoprotein metabolic pro cess	TAS	biological_process
GO:0042159	lipoprotein catabolic pro cess	IBA	biological_process
GO:0042159	lipoprotein catabolic pro cess	TAS	biological_process
GO:0042627	chylomicron	IDA	cellular_component
GO:0042627	chylomicron	IDA	cellular_component
GO:0042632	cholesterol homeostasis	IDA	biological_process
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043025	neuronal cell body	NAS	cellular_component
GO:0043407	negative regulation of MA P kinase activity	IDA	biological_process
GO:0043524	negative regulation of ne uron apoptotic process	IBA	biological_process
GO:0043537	negative regulation of bl ood vessel endothelial ce ll migration	IDA	biological_process
GO:0043691	reverse cholesterol trans port	IDA	biological_process
GO:0044794	positive regulation by ho st of viral process	IMP	biological_process
GO:0045541	negative regulation of ch olesterol biosynthetic pr ocess	IDA	biological_process
GO:0046889	positive regulation of li pid biosynthetic process	IDA	biological_process
GO:0046907	intracellular transport	TAS	biological_process
GO:0046911	metal chelating activity	IDA	molecular_function
GO:0048156	tau protein binding	IPI	molecular_function
GO:0048168	regulation of neuronal sy naptic plasticity	TAS	biological_process
GO:0050728	negative regulation of in flammatory response	IC	biological_process
GO:0050750	low-density lipoprotein p article receptor binding	IPI	molecular_function
GO:0050750	low-density lipoprotein p article receptor binding	IDA	molecular_function
GO:0051000	positive regulation of ni tric-oxide synthase activ ity	IDA	biological_process
GO:0051044	positive regulation of me mbrane protein ectodomain proteolysis	IDA	biological_process
GO:0051055	negative regulation of li pid biosynthetic process	IDA	biological_process
GO:0055089	fatty acid homeostasis	IDA	biological_process
GO:0060228	phosphatidylcholine-stero l O-acyltransferase activ ator activity	IDA	molecular_function
GO:0060999	positive regulation of de ndritic spine development	IDA	biological_process
GO:0061000	negative regulation of de ndritic spine development	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070326	very-low-density lipoprot ein particle receptor bin ding	IPI	molecular_function
GO:0070326	very-low-density lipoprot ein particle receptor bin ding	IDA	molecular_function
GO:0071682	endocytic vesicle lumen	TAS	cellular_component
GO:0072562	blood microparticle	IDA	cellular_component
GO:0090090	negative regulation of ca nonical Wnt signaling pat hway	TAS	biological_process
GO:0090370	negative regulation of ch olesterol efflux	IDA	biological_process
GO:0097113	AMPA glutamate receptor c lustering	IDA	biological_process
GO:0097114	NMDA glutamate receptor c lustering	IDA	biological_process
GO:1900221	regulation of beta-amyloi d clearance	IDA	biological_process
GO:1901214	regulation of neuron deat h	IDA	biological_process
GO:1901215	negative regulation of ne uron death	IDA	biological_process
GO:1901216	positive regulation of ne uron death	IDA	biological_process
GO:1901627	negative regulation of po stsynaptic membrane organ ization	IDA	biological_process
GO:1901628	positive regulation of po stsynaptic membrane organ ization	IDA	biological_process
GO:1901630	negative regulation of pr esynaptic membrane organi zation	IDA	biological_process
GO:1901631	positive regulation of pr esynaptic membrane organi zation	IDA	biological_process
GO:1902004	positive regulation of be ta-amyloid formation	IDA	biological_process
GO:1902004	positive regulation of be ta-amyloid formation	IDA	biological_process
GO:1902430	negative regulation of be ta-amyloid formation	IDA	biological_process
GO:1902430	negative regulation of be ta-amyloid formation	IDA	biological_process
GO:1902947	regulation of tau-protein kinase activity	IDA	biological_process
GO:1902951	negative regulation of de ndritic spine maintenance	IDA	biological_process
GO:1902952	positive regulation of de ndritic spine maintenance	IDA	biological_process
GO:1902995	positive regulation of ph ospholipid efflux	IDA	biological_process
GO:1902998	positive regulation of ne urofibrillary tangle asse mbly	IDA	biological_process
GO:1902999	negative regulation of ph ospholipid efflux	IDA	biological_process
GO:1903001	negative regulation of li pid transport across bloo d brain barrier	IDA	biological_process
GO:1903002	positive regulation of li pid transport across bloo d brain barrier	IDA	biological_process
GO:1903561	extracellular vesicle	IDA	cellular_component

KEGG pathways

hsa05010 Alzheimer's disease

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 16136540, KEGG: H00056
Amnesia	PMID: 18779428
Amyloid neuropathies	PMID: 19493541
Amyotrophic lateral sclerosis (ALS)	PMID: 18513389
Aphasia	PMID: 19494491
Atherosclerosis	PMID: 12118856
Attention-deficit hyperactivity disorder (ADHD)	PMID: 11140838
Autism	PMID: 17621165
Calcinosis	PMID: 18619685
Cardiovascular disease	PMID: 11975906
Cataract	PMID: 18498549
Cerebral palsy	PMID: 18810496
Cervical dystonia	PMID: 19857550
Chronic obstructive pulmonary disease (COPD)	PMID: 15193960
Colitis	PMID: 18762952
Creutzfeldt-Jakob disease	PMID: 11684342
Dementia	PMID: 17614163
Depression	PMID: 11526473
Diabetes	PMID: 19693485
Down syndrome	PMID: 9665649, PMID: 9189907
Dyslipidemia	PMID: 18512131
Endometrial cancer	PMID: 25741405
Endometriosis	PMID: 22266326
Epilepsy	PMID: 18672349
Fatty liver	PMID: 18465245
Fredrickson hyperlipoproteinemia	PMID: 19656773
Glaucoma	PMID: 16148883
Glomerulonephritis	PMID: 19420105
Guillain-Barre syndrome	PMID: 12810796
Holoprosencephaly	PMID: 11857554
Hypercholesterolemia	PMID: 15135251
Hyperhomocysteinemia	PMID: 19006190
Hyperlipidemia	PMID: 16143024
Hyperlipoproteinemia	PMID: 19034316
Hypertriglyceridemia	PMID: 18549811, KEGG: H01637
Inflammatory bowel disease	PMID: 17111197
Ischemic heart disease	PMID: 11454010
Keratosis	PMID: 19300863
Kidney disease	PMID: 18974580
Learning Disorders	PMID: 19409447
Macular degeneration	PMID: 15829498
Major depressive disorder	PMID: 19135213
Male infertility	PMID: 18443916
Memory disorders	PMID: 18615849
Mental disorders	PMID: 19943806
Metabolic syndrome	PMID: 18515697
Migraine disorders	PMID: 19184578
Mood disorders	PMID: 18926856
Multiple sclerosis	PMID: 15124760
Nephropathy	PMID: 11347178
Obesity	PMID: 18454345
Oocyte maturation	PMID: 19230882
Paralysis	PMID: 18581664
Parkinson's disease	PMID: 11992569
Polycystic ovary syndrome (PCOS)	PMID: 22197603
Preeclampsia	PMID: 14687732
Psoriasis	PMID: 19499236
Recurrent miscarriage	PMID: 22047507
Retinopathy	PMID: 12724690
Schizophrenia	PMID: 12837518
Sea-blue histiocyte disease	KEGG: H01168
Severe type III hyperlipoproteinemia	PMID: 1360898
Smith-Lemli-Opitz syndrome	PMID: 15286151
Spinal Cord Injuries	PMID: 18504448
Endometriosis associated infertility	INFBASE22266326
Endometriosis	INFBASE22266326
Unexplained infertility	PMID: 19230882
Wilsons disease	PMID: 19722128

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22266326	Endometrio sis			611 (345 patien ts with endomet riosis, 266 con trols )	Female infertility		Show abstract