Gene Gene information from NCBI Gene database.
Entrez ID 348
Gene name Apolipoprotein E
Gene symbol APOE
Synonyms (NCBI Gene)
AD2APO-EApoE4LDLCQ5LPG
Chromosome 19
Chromosome location 19q13.32
Summary 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
SNPs SNP information provided by dbSNP.
31
SNP ID Visualize variation Clinical significance Consequence
rs7412 C>T Drug-response, pathogenic, uncertain-significance, other, risk-factor Coding sequence variant, missense variant
rs405509 T>G Drug-response, risk-factor Upstream transcript variant
rs429358 T>C Association, drug-response, pathogenic, uncertain-significance, other, protective, likely-pathogenic, risk-factor Coding sequence variant, missense variant
rs769450 G>A Drug-response Intron variant
rs769452 T>A,C Conflicting-interpretations-of-pathogenicity, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
66
miRTarBase ID miRNA Experiments Reference
MIRT053553 hsa-miR-199a-5p ELISALuciferase reporter assayMicroarray 23142051
MIRT053554 hsa-miR-1908-5p ELISALuciferase reporter assayMicroarray 23142051
MIRT053558 hsa-miR-199a-3p ELISALuciferase reporter assayMicroarray 23142051
MIRT2476378 hsa-miR-1182 CLIP-seq
MIRT2476379 hsa-miR-1205 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
ATF4 Activation 22028770
FOXM1 Unknown 11229886
SP1 Unknown 11229886
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
242
GO ID Ontology Definition Evidence Reference
GO:0000302 Process Response to reactive oxygen species NAS 11743999
GO:0001540 Function Amyloid-beta binding IDA 8089103, 11305869, 25207746
GO:0001540 Function Amyloid-beta binding IPI 9003062, 9211985, 22138302
GO:0001937 Process Negative regulation of endothelial cell proliferation IDA 9685360
GO:0002021 Process Response to dietary excess IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107741 613 ENSG00000130203
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02649
Protein name Apolipoprotein E (Apo-E)
Protein function APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:14754908, PubMed:1911868, PubMed:6860692). APOE is
PDB 1B68 , 1BZ4 , 1EA8 , 1GS9 , 1H7I , 1LE2 , 1LE4 , 1LPE , 1NFN , 1NFO , 1OEF , 1OEG , 1OR2 , 1OR3 , 2KC3 , 2KNY , 2L7B , 6IWB , 6NCN , 6NCO , 7FCR , 7FCS , 7UVJ , 8AX8 , 8AX9 , 8CDY , 8CE0 , 8GRX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01442 Apolipoprotein 81 288 Apolipoprotein A1/A4/E domain Domain
Tissue specificity TISSUE SPECIFICITY: Produced by several tissues and cell types and mainly found associated with lipid particles in the plasma, the interstitial fluid and lymph (PubMed:25173806). Mainly synthesized by liver hepatocytes (PubMed:25173806). Significant quant
Sequence
Sequence length 317
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cholesterol metabolism
Alzheimer disease
  Nuclear signaling by ERBB4
Scavenging by Class A Receptors
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
Post-translational protein phosphorylation
Chylomicron assembly
Chylomicron remodeling
Chylomicron clearance
HDL remodeling
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
213
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal circulating lipid concentration Likely pathogenic rs200703101 RCV000417087
APOE-related disorder Pathogenic rs515726148 RCV004755773
APOE2 VARIANT Pathogenic rs28931578 RCV000019460
APOE2-DUNEDIN Pathogenic rs121918395 RCV000019442
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs11083750, rs28931577, rs267606663, rs267606662, rs429358 -
Alzheimer disease Conflicting classifications of pathogenicity; other; risk factor rs429358 RCV000991302
Alzheimer disease 2 Conflicting classifications of pathogenicity; other; risk factor; Uncertain significance rs563571689, rs769455, rs140808909, rs429358, rs190853081, rs267606661 RCV002302437
RCV005357151
RCV005357623
RCV000019448
RCV005367404
RCV005367405
Alzheimer disease 4 Conflicting classifications of pathogenicity; other; risk factor rs429358, rs769452 RCV001195807
RCV001195944
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 15965197, 17916554, 20153809, 20373342, 20598287, 21061402, 21502596, 22155582, 22693110, 22972644, 23624169, 23965289, 24385135, 24577457, 24596678
View all (39 more)
AA amyloidosis Stimulate 23762308, 35995824, 7534068
AA amyloidosis Inhibit 31947546, 34586832, 39394110
Abetalipoproteinemia Associate 7852858
Abnormalities Drug Induced Associate 12507914, 30528368, 39670385
Abortion Spontaneous Associate 22266326, 26952784, 30338758, 34867826
Acquired Immunodeficiency Syndrome Associate 19808960, 29558961
Acute cholinergic dysautonomia Associate 8618881
Acute Coronary Syndrome Associate 10487142, 17174184, 19545491, 19851649, 40257950
Acute Disease Associate 37304007