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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
151
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal circulating lipid concentration Likely pathogenic rs200703101 RCV000417087
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOE-related disorder Pathogenic rs515726148 RCV004755773
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOE2 VARIANT Pathogenic rs28931578 RCV000019460
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOE2-DUNEDIN Pathogenic rs121918395 RCV000019442
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Alzheimer disease Conflicting classifications of pathogenicity; other; risk factor ClinVar
GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Alzheimer disease 2 Conflicting classifications of pathogenicity; other; risk factor; Uncertain significance ClinVar
ClinVar, Disgenet, GenCC, HPO
ClinVar, Disgenet, GenCC, HPO
ClinVar, Disgenet, GenCC, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Alzheimer disease 4 Conflicting classifications of pathogenicity; other; risk factor ClinVar
ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ALZHEIMER DISEASE TYPE 2 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 15910857
★☆☆☆☆
Found in Text Mining only
Abetalipoproteinemia Abetalipoproteinemia Pubtator 7852858 Associate
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 22200909
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 11571342, 12580859, 16926234
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 19734902, 20819998, 24162737, 24473795, 27023435, 29107063, 30319691, 30320580, 8346443
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 10487142, 17174184, 19851649, 27034473, 30130761
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome GWASCAT_DG 28753643
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 31213474
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 22251476, 24009459, 7517545
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis HPO_DG
★☆☆☆☆
Found in Text Mining only