Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
348
Gene name Gene Name - the full gene name approved by the HGNC.
Apolipoprotein E
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APOE
Synonyms (NCBI Gene) Gene synonyms aliases
AD2, APO-E, ApoE4, LDLCQ5, LPG
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT053553 hsa-miR-199a-5p ELISA, Luciferase reporter assay, Microarray 23142051
MIRT053554 hsa-miR-1908-5p ELISA, Luciferase reporter assay, Microarray 23142051
MIRT053558 hsa-miR-199a-3p ELISA, Luciferase reporter assay, Microarray 23142051
MIRT2476378 hsa-miR-1182 CLIP-seq
MIRT2476379 hsa-miR-1205 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
ATF4 Activation 22028770
FOXM1 Unknown 11229886
SP1 Unknown 11229886
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
107741 613 ENSG00000130203
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hyperlipoproteinemia Familial type 3 hyperlipoproteinemia, Hyperlipoproteinemia, type III, due to APOE2 rs121918397, rs121918393, rs387906567, rs397514253, rs397514254, rs121918394, rs2122132718, rs121918396 N/A
Lipoprotein Glomerulopathy lipoprotein glomerulopathy rs121918397, rs121918399 N/A
HYPERLIPOPROTEINEMIA AND ATHEROSCLEROSIS hyperlipoproteinemia, type iii, and atherosclerosis associated with apoe5 rs121918392 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease alzheimer disease 4, Alzheimer's disease or family history of Alzheimer's disease, Primary degenerative dementia of the Alzheimer type, presenile onset N/A N/A ClinVar, GWAS
alzheimer disease Alzheimer disease N/A N/A ClinVar
Cerebral amyloid angiopathy Cerebral amyloid angiopathy N/A N/A GWAS
Cirrhosis Cirrhosis N/A N/A GWAS
Associations from Text Mining Disease 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