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Aliases for APOE Gene

Aliases for APOE Gene

  • Apolipoprotein E 2 3
  • LDLCQ5 3 6
  • APO-E 3 4
  • LPG 3 6
  • AD2 3 6
  • Alzheimer Disease 2 (APOE*E4-Associated, Late Onset) 2
  • Apolipoprotein E3 3

External Ids for APOE Gene

Previous Symbols for APOE Gene

  • AD2

Summaries for APOE Gene

Entrez Gene Summary for APOE 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 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for APOE Gene

APOE (Apolipoprotein E) is a Protein Coding gene. Diseases associated with APOE include sea-blue histiocyte disease and moderate and severe traumatic brain injury. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity.

UniProtKB/Swiss-Prot for APOE Gene

  • Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues

Gene Wiki entry for APOE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOE Gene

Genomics for APOE Gene

Genomic Location for APOE Gene

Start:
44,905,754 bp from pter
End:
44,909,393 bp from pter
Size:
3,640 bases
Orientation:
Plus strand

Genomic View for APOE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APOE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOE Gene

Regulatory Elements for APOE Gene

Proteins for APOE Gene

  • Protein details for APOE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02649-APOE_HUMAN
    Recommended name:
    Apolipoprotein E
    Protein Accession:
    P02649
    Secondary Accessions:
    • B2RC15
    • C0JYY5
    • Q9P2S4

    Protein attributes for APOE Gene

    Size:
    317 amino acids
    Molecular mass:
    36154 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for APOE Gene

neXtProt entry for APOE Gene

Proteomics data for APOE Gene at MOPED

Post-translational modifications for APOE Gene

  • Glycated in plasma VLDL of normal subjects, and of hyperglycemic diabetic patients at a higher level (2-3 fold)
  • Phosphorylation sites are present in the extracellular medium
  • Synthesized with the sialic acid attached by O-glycosidic linkage and is subsequently desialylated in plasma. O-glycosylated with core 1 or possibly core 8 glycans. Thr-307 and Ser-314 are minor glycosylation sites compared to Ser-308.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr26, Thr36, Lys93, Thr212, Ser215, Thr307, Ser308, and Ser314

Other Protein References for APOE Gene

No data available for DME Specific Peptides for APOE Gene

Domains for APOE Gene

Gene Families for APOE Gene

HGNC:

Protein Domains for APOE Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

APOE_HUMAN
Family:
  • Belongs to the apolipoprotein A1/A4/E family.:
    • P02649
genes like me logo Genes that share domains with APOE: view

Function for APOE Gene

Molecular function for APOE Gene

GENATLAS Biochemistry: apolipoprotein E,component of VLDL and ApoE receptors,putative susceptibility factor (epsilon 4 allele) for agressive multiple sclerosis and for early-onset coronary heart disease
UniProtKB/Swiss-Prot Function: Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues

Gene Ontology (GO) - Molecular Function for APOE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IDA 11305869
GO:0005102 receptor binding --
GO:0005319 lipid transporter activity IDA 17305370
GO:0005515 protein binding IPI 12950167
GO:0005543 phospholipid binding IDA 4066713
genes like me logo Genes that share ontologies with APOE: view
genes like me logo Genes that share phenotypes with APOE: view

Animal Models for APOE Gene

MGI Knock Outs for APOE:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for APOE Gene

Localization for APOE Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOE Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APOE Gene COMPARTMENTS Subcellular localization image for APOE gene
Compartment Confidence
extracellular 5
endosome 4
plasma membrane 4
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
lysosome 2
mitochondrion 2
nucleus 2
peroxisome 2
vacuole 2
cytosol 1

Gene Ontology (GO) - Cellular Components for APOE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005634 nucleus IDA 21630459
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm TAS 9622609
genes like me logo Genes that share ontologies with APOE: view

Pathways for APOE Gene

genes like me logo Genes that share pathways with APOE: view

Pathways by source for APOE Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for APOE Gene
1 R&D Systems pathway for APOE Gene
2 Cell Signaling Technology pathways for APOE Gene
3 BioSystems pathways for APOE Gene
1 PharmGKB pathway for APOE Gene
1 KEGG pathway for APOE Gene

Gene Ontology (GO) - Biological Process for APOE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species NAS 11743999
GO:0001523 retinoid metabolic process TAS --
GO:0001937 negative regulation of endothelial cell proliferation IDA 9685360
GO:0002021 response to dietary excess IEA --
GO:0006629 lipid metabolic process --
genes like me logo Genes that share ontologies with APOE: view

Compounds for APOE Gene

(1) HMDB Compounds for APOE Gene

Compound Synonyms Cas Number PubMed IDs
Heparin
  • Arteven
9005-49-6

(2) Drugbank Compounds for APOE Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Human Serum Albumin
9048-49-1 target
Serum albumin iodonated
9048-49-1 target

(119) Novoseek inferred chemical compound relationships for APOE Gene

Compound -log(P) Hits PubMed IDs
cholesterol 88.7 386
lipid 82.2 317
24s-hydroxy-cholesterol 67.6 19
xbai 59.1 27
cholesterol ester 58.9 22

(8) PharmGKB related drug/compound annotations for APOE Gene

genes like me logo Genes that share compounds with APOE: view

Transcripts for APOE Gene

Unigene Clusters for APOE Gene

Apolipoprotein E:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for APOE Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d
SP1: - - -
SP2: - -
SP3: - -
SP4:

Relevant External Links for APOE Gene

GeneLoc Exon Structure for
APOE
ECgene alternative splicing isoforms for
APOE

Expression for APOE Gene

mRNA expression in normal human tissues for APOE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOE Gene

This gene is overexpressed in Liver (11.9) and Adrenal Gland (6.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APOE Gene

SOURCE GeneReport for Unigene cluster for APOE Gene Hs.654439

mRNA Expression by UniProt/SwissProt for APOE Gene

P02649-APOE_HUMAN
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, brain, spleen, lung, adrenal, ovary, kidney and muscle
genes like me logo Genes that share expressions with APOE: view

Orthologs for APOE Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APOE 36
  • 98.42 (n)
  • 97.16 (a)
APOE 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APOE 36
  • 81.79 (n)
  • 72.52 (a)
APOE 37
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APOE 36
  • 83.17 (n)
  • 71.52 (a)
APOE 37
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apoe 36
  • 78.68 (n)
  • 73.38 (a)
Apoe 16
Apoe 37
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APOE 37
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOE 37
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apoe 36
  • 78.53 (n)
  • 72.17 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia apoe 36
  • 43.67 (n)
  • 27.01 (a)
zebrafish
(Danio rerio)
Actinopterygii apoea 37
  • 25 (a)
OneToMany
apoeb 37
  • 28 (a)
OneToMany
Species with no ortholog for APOE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APOE Gene

ENSEMBL:
Gene Tree for APOE (if available)
TreeFam:
Gene Tree for APOE (if available)

Paralogs for APOE Gene

No data available for Paralogs for APOE Gene

Variants for APOE Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for APOE Gene

P02649-APOE_HUMAN
Three common APOE alleles have been identified: APOE*2, APOE*3, and APOE*4. The corresponding three major isoforms, E2, E3, and E4, are recognized according to their relative position after isoelectric focusing. Different mutations causing the same migration pattern after isoelectric focusing define different isoform subtypes. The most common isoform is E3 and is present in 40-90% of the population. Common APOE variants influence lipoprotein metabolism in healthy individuals

Sequence variations from dbSNP and Humsavar for APOE Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs7412 Pathogenic, Hyperlipoproteinemia 3 (HLPP3) 44,908,822(+) AGAAG(C/T)GCCTG reference, missense
rs405509 other 44,905,579(-) GTAAT(A/C)CAGAC upstream-variant-2KB
rs429358 Pathogenic, Hyperlipoproteinemia 3 (HLPP3) 44,908,684(+) ACGTG(C/T)GCGGC missense, reference
rs434132 -- 44,904,463(-) GGGTG(C/G)GATCA upstream-variant-2KB
rs439382 -- 44,905,218(-) aatcc(C/T)agcta upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for APOE Gene

Variant ID Type Subtype PubMed ID
dgv3948n71 CNV Loss 21882294
nsv509747 CNV Insertion 20534489
dgv3949n71 CNV Loss 21882294
nsv912133 CNV Loss 21882294
nsv912134 CNV Loss 21882294
dgv3950n71 CNV Loss 21882294
nsv912136 CNV Loss 21882294

Relevant External Links for APOE Gene

HapMap Linkage Disequilibrium report
APOE
Human Gene Mutation Database (HGMD)
APOE

Disorders for APOE Gene

(4) OMIM Diseases for APOE Gene (107741)

UniProtKB/Swiss-Prot

APOE_HUMAN
  • Hyperlipoproteinemia 3 (HLPP3) [MIM:107741]: A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. {ECO:0000269 PubMed:1674745, ECO:0000269 PubMed:22481068, ECO:0000269 PubMed:2556398, ECO:0000269 PubMed:8287539}. Note=The disease is caused by mutations affecting the gene represented in this entry. The vast majority of the patients are homozygous for APOE*2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE*4 variant are at higher risk of CAD.
  • Alzheimer disease 2 (AD2) [MIM:104310]: A late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. The APOE*4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE*4 alleles in 42 families with late onset AD. Thus APOE*4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE*4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.
  • Sea-blue histiocyte disease (SBHD) [MIM:269600]: Characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses. {ECO:0000269 PubMed:11095479, ECO:0000269 PubMed:16094309}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lipoprotein glomerulopathy (LPG) [MIM:611771]: Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. {ECO:0000269 PubMed:10432380, ECO:0000269 PubMed:18077821, ECO:0000269 PubMed:9176854}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hypercholesterolemia (FH) [MIM:143890]: Common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). {ECO:0000269 PubMed:22949395}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(94) Novoseek inferred disease relationships for APOE Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 95 273
hyperlipoproteinemia type iii 89.8 72
late onset alzheimer disease 88.1 39
dementia 86.6 230
senile plaques 85.4 136

Relevant External Links for APOE

Genetic Association Database (GAD)
APOE
Human Genome Epidemiology (HuGE) Navigator
APOE
genes like me logo Genes that share disorders with APOE: view

Publications for APOE Gene

  1. Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. (PMID: 11095479) Nguyen T.T. … O'Brien T. (J. Clin. Endocrinol. Metab. 2000) 3 4 23 49
  2. Cardiovascular infection by Chlamydia pneumoniae is not related to apolipoprotein E genotype. (PMID: 11096027) Gieffers J. … Maass M. (Clin. Infect. Dis. 2000) 3 23 49
  3. Apolipoprotein E genotypes and response of plasma lipids and progression-regression of coronary atherosclerosis to lipid-lowering drug therapy. (PMID: 11079660) Ballantyne C.M. … Marian A.J. (J. Am. Coll. Cardiol. 2000) 3 23 49
  4. APOE polymorphisms and the development of diabetic nephropathy in type 1 diabetes: results of case-control and family-based studies. (PMID: 11118024) Araki S. … Krolewski A.S. (Diabetes 2000) 3 23 49
  5. Genetic risk factors of sporadic Alzheimer's disease among Chinese in Taiwan. (PMID: 11099722) Hu C.J. … Chang J.G. (J. Neurol. Sci. 2000) 3 23 49

Products for APOE Gene

  • Addgene plasmids for APOE

Sources for APOE Gene

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