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GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APOE
apolipoprotein E
Chromosome 19 · 19q13.32
NCBI Gene: 348Ensembl: ENSG00000130203.11HGNC: HGNC:613UniProt: A0A0S2Z3D5
5,224PubMed Papers
24Diseases
0Drugs
20Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Highly StudiedLandmark GeneTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cellular response to very-low-density lipoprotein particle stimuluspositive regulation of dendritic spine developmentpositive regulation of dendritic spine maintenanceAMPA glutamate receptor clusteringcoronary artery diseasehyperlipoproteinemia type 3lipoprotein glomerulopathyAlzheimer disease
✦AI Summary

APOE encodes apolipoprotein E, the major lipid and cholesterol carrier in the central nervous system 1. Primary function involves cholesterol metabolism and lipoprotein transport, with the APOE gene exhibiting three major polymorphisms (ε2, ε3, ε4) that critically influence disease risk 2. Mechanism: APOE modulates Alzheimer's disease pathogenesis through multiple pathways beyond amyloid-β metabolism. The ε4 allele drives earlier and more abundant amyloid pathology 2, while APOE regulates tau neurofibrillary degeneration, microglia and astrocyte responses, and blood-brain barrier integrity 3. APOE influences amyloid-responsive microglia populations, with ε4 carriers showing depleted CD163-positive microglia 4. Additionally, APOE genotype shapes gut microbiome composition and butyrate-producing bacteria abundance, potentially affecting neuroinflammation 5. Disease relevance: APOE ε4 is the strongest genetic risk factor for late-onset Alzheimer's disease and increases cardiovascular disease risk through elevated LDL cholesterol 6. APOE ε2 provides protective effects. Rare APOE variants contribute to familial dyslipidemia and autosomal dominant hypercholesterolemia 6. APOE impacts other neurodegenerative diseases including Parkinson's disease, traumatic brain injury, and multiple sclerosis 1. Clinical significance: No APOE-directed therapies currently exist despite preclinical success with level modulation, lipidation enhancement, and isoform switching approaches in mouse models 3.

Sources cited
1
APOE ε4 is strongest AD genetic risk factor; ε2 is protective; pathways include amyloid-β, tau, microglia, astrocyte, and BBB dysfunction; therapeutic approaches in mouse models
PMID: 33340485
2
APOE genotype polymorphism major genetic determinant of late-onset AD; ε4 drives earlier amyloid pathology; APOE influences tau, neuroinflammation, lipid transport, synaptic plasticity, glucose metabolism
PMID: 31367008
3
APOE4 associated with increased LDL-cholesterol and cardiovascular risk; APOE2 protective; rare variants cause familial dyslipidemia and autosomal dominant hypercholesterolemia
PMID: 34058468
4
APOE and TREM2 risk variants associate with depleted CD163-positive amyloid-responsive microglia in AD brains
PMID: 32840654
5
APOE is major CNS lipid/cholesterol carrier; three polymorphisms affect AD pathology through neuroinflammation, astrocytes, microglia, synaptic function, amyloid-β load, tau pathology; impacts other neurodegenerative diseases
PMID: 36153580
6
APOE genotype associates with gut microbiome composition and butyrate-producing bacteria abundance in humans and mice
PMID: 30958695
Disease Associationsⓘ24
coronary artery diseaseOpen Targets
0.82Strong
hyperlipoproteinemia type 3Open Targets
0.81Strong
lipoprotein glomerulopathyOpen Targets
0.77Strong
Alzheimer diseaseOpen Targets
0.68Moderate
Sea-blue histiocytosisOpen Targets
0.64Moderate
age-related macular degenerationOpen Targets
0.63Moderate
dementiaOpen Targets
0.63Moderate
familial hypercholesterolemiaOpen Targets
0.62Moderate
HypercholesterolemiaOpen Targets
0.61Moderate
sea-blue histiocyte syndromeOpen Targets
0.61Moderate
early-onset autosomal dominant Alzheimer diseaseOpen Targets
0.60Moderate
diabetes mellitusOpen Targets
0.60Moderate
hypertensionOpen Targets
0.60Moderate
type 2 diabetes mellitusOpen Targets
0.59Moderate
Myocardial IschemiaOpen Targets
0.59Moderate
myocardial infarctionOpen Targets
0.59Moderate
hyperlipidemiaOpen Targets
0.58Moderate
coronary atherosclerosisOpen Targets
0.58Moderate
metabolic syndromeOpen Targets
0.58Moderate
cardiovascular diseaseOpen Targets
0.57Moderate
Alzheimer disease 2UniProt
Hyperlipoproteinemia 3UniProt
Lipoprotein glomerulopathyUniProt
Sea-blue histiocyte diseaseUniProt
Pathogenic Variants20
NM_000041.4(APOE):c.460C>A (p.Arg154Ser)Likely pathogenic
Familial type 3 hyperlipoproteinemia|Familial hypercholesterolemia
★★☆☆2025→ Residue 154
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)Pathogenic
Sea-blue histiocyte syndrome|Cardiovascular phenotype|not provided|APOE-related disorder|Familial hypercholesterolemia
★★☆☆2025→ Residue 167
NM_000041.4(APOE):c.683G>A (p.Trp228Ter)Likely pathogenic
Familial type 3 hyperlipoproteinemia|HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)|not provided
★★☆☆2025→ Residue 228
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)Pathogenic
Lipoprotein glomerulopathy|7 conditions|Cardiovascular phenotype|not provided
★★☆☆2025→ Residue 43
NM_000041.4(APOE):c.461G>A (p.Arg154His)Likely pathogenic
Familial type 3 hyperlipoproteinemia
★☆☆☆2024→ Residue 154
NM_000041.4(APOE):c.300_303del (p.Thr101fs)Likely pathogenic
Familial hypercholesterolemia
★☆☆☆2024→ Residue 101
NM_000041.4(APOE):c.478C>T (p.Arg160Cys)Likely pathogenic
Familial type 3 hyperlipoproteinemia
★☆☆☆2022→ Residue 160
NM_000041.4(APOE):c.548G>C (p.Gly183Ala)Likely pathogenic
Familial type 3 hyperlipoproteinemia
★☆☆☆2022→ Residue 183
NM_000041.4(APOE):c.461G>T (p.Arg154Leu)Likely pathogenic
Abnormal circulating lipid concentration
★☆☆☆2015→ Residue 154
NM_000041.4(APOE):c.494G>C (p.Arg165Pro)Likely pathogenic
Lipoprotein glomerulopathy
★☆☆☆→ Residue 165
NM_000041.4(APOE):c.415_435dup (p.Glu139_Gly145dup)Pathogenic
Familial type 3 hyperlipoproteinemia
☆☆☆☆2004→ Residue 139
NM_000041.4(APOE):c.488G>C (p.Arg163Pro)Pathogenic
Lipoprotein glomerulopathy
☆☆☆☆2000→ Residue 163
NM_000041.4(APOE):c.490A>G (p.Lys164Glu)Pathogenic
Familial type 3 hyperlipoproteinemia
☆☆☆☆1995→ Residue 164
NM_000041.4(APOE):c.61G>A (p.Glu21Lys)Pathogenic
HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
☆☆☆☆1995→ Residue 21
NM_000041.4(APOE):c.875G>A (p.Arg292His)Pathogenic
APOE4 VARIANT
☆☆☆☆1993→ Residue 292
NM_000041.4(APOE):c.146del (p.Gly49fs)Pathogenic
Familial type 3 hyperlipoproteinemia
☆☆☆☆1992→ Residue 49
NM_000041.4(APOE):c.455G>A (p.Arg152Gln)Pathogenic
APOE2 VARIANT
☆☆☆☆1991→ Residue 152
NM_000041.4(APOE):c.736C>T (p.Arg246Cys)Pathogenic
APOE2-DUNEDIN|HYPERLIPOPROTEINEMIA, TYPE IV/V, DUE TO APOE2-DUNEDIN
☆☆☆☆1991→ Residue 246
NM_000041.4(APOE):c.490A>C (p.Lys164Gln)Pathogenic
Hyperlipoproteinemia, type III, due to APOE2
☆☆☆☆1990→ Residue 164
NM_000041.4(APOE):c.237-2A>GPathogenic
Familial type 3 hyperlipoproteinemia
☆☆☆☆1987
View on ClinVar ↗
Related Genes
A2MProtein interaction100%SCARB2Protein interaction100%CST3Protein interaction100%ACEProtein interaction100%GPC1Protein interaction100%GSNProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
4%
Brain
2%
Bone Marrow
2%
Lung
1%
Heart
1%
Gene Interaction Network
Click a node to explore
APOEA2MSCARB2CST3ACEGPC1GSN
PROTEIN STRUCTURE
Preparing viewer…
PDB7FCR · 1.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.52–1.32]
RankingsWhere APOE stands among ~20K protein-coding genes
  • #5of 20,598
    Most Researched5,224 · top 1%
  • #2,170of 5,498
    Most Pathogenic Variants20
  • #13,851of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedAPOE
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
APOE and Alzheimer's disease: advances in genetics, pathophysiology, and therapeutic approaches.
PMID: 33340485
Lancet Neurol · 2021
1.00
2
Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies.
PMID: 31367008
Nat Rev Neurol · 2019
0.90
3
APOE gene variants in primary dyslipidemia.
PMID: 34058468
Atherosclerosis · 2021
0.80
4
APOE gene and neuropsychiatric disorders and endophenotypes: A comprehensive review.
PMID: 27943569
Am J Med Genet B Neuropsychiatr Genet · 2018
0.80
5
Secreted Apoe rewires melanoma cell state vulnerability to ferroptosis.
PMID: 39413195
Sci Adv · 2024
0.78