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Aliases for APOE Gene

Aliases for APOE Gene

  • Apolipoprotein E 2 3 3 5
  • Alzheimer Disease 2 (APOE*E4-Associated, Late Onset) 2
  • Apolipoprotein E3 3
  • LDLCQ5 3
  • APO-E 3
  • ApoE4 3
  • Apo-E 4
  • LPG 3
  • AD2 3

External Ids for APOE Gene

Previous HGNC Symbols for APOE Gene

  • AD2

Previous GeneCards Identifiers for APOE Gene

  • GC19P046053
  • GC19P045799
  • GC19P050085
  • GC19P050100
  • GC19P045408
  • GC19P041839

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. [provided by RefSeq, Jun 2016]

GeneCards Summary for APOE Gene

APOE (Apolipoprotein E) is a Protein Coding gene. Diseases associated with APOE include Lipoprotein Glomerulopathy and Hyperlipoproteinemia, Type Iii. Among its related pathways are Gene Expression and Reelin Pathway (Cajal-Retzius cells). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and signaling receptor binding.

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

Additional gene information for APOE Gene

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

Genomics for APOE Gene

GeneHancer (GH) Regulatory Elements for APOE Gene

Promoters and enhancers for APOE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J044903 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 660.1 -0.4 -403 4 HDGF HNRNPUL1 PKNOX1 MLX ARID4B SIN3A DMAP1 SLC30A9 POLR2B E2F8 APOE ZNF180 ZNF224 CLASRP ZNF45 ZNF230 ZNF284 ZNF234 FBXO46 ENSG00000269148
GH19J044900 Promoter 0.7 EPDnew 650.7 -5.0 -4980 0.1 POLR2A ZFP36 GC19P044899 APOE TOMM40
GH19J044909 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 11.9 +6.9 6940 6.3 HDGF MLX ARNT ARID4B SIN3A DMAP1 POLR2B ZNF766 ZNF143 FOS APOC1 GC19M044904 GC19P044915 SYMPK APOE RELB ZNF227 NECTIN2 BCAM ENSG00000280087
GH19J045038 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.2 +134.3 134317 3.9 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YBX1 YY1 POLR2B ZNF213 CLASRP ZNF180 ZNF225 ZNF284 ZNF224 ZNF223 ZNF235 ZNF234 ZNF227 ZNF226
GH19J044806 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11 -97.3 -97344 3.5 HDGF CLOCK FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 BCAM ENSG00000252200 CEACAM19 APOE ZNF404 PIR44195 GC19M044733
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APOE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APOE gene promoter:

Genomic Locations for APOE Gene

Genomic Locations for APOE Gene
chr19:44,905,749-44,909,395
(GRCh38/hg38)
Size:
3,647 bases
Orientation:
Plus strand
chr19:45,409,011-45,412,650
(GRCh37/hg19)

Genomic View for APOE Gene

Genes around APOE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for APOE Gene

  • 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.
  • Glycated in plasma VLDL of normal subjects, and of hyperglycemic diabetic patients at a higher level (2-3 fold).
  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at posLast=314314, posLast=308308, Thr307, Thr212, Lys93, posLast=3636, and posLast=2626
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • APOE_HUMAN (648)

Assay Products

  • Boster Bio ELISA Kits for APOE

No data available for DME Specific Peptides for APOE Gene

Domains & Families for APOE Gene

Gene Families for APOE Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for APOE Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for APOE Gene

Graphical View of Domain Structure for InterPro Entry

P02649

UniProtKB/Swiss-Prot:

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

Function for APOE Gene

Molecular function for APOE Gene

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.
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

Phenotypes From GWAS Catalog for APOE Gene

Gene Ontology (GO) - Molecular Function for APOE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IPI 9003062
GO:0005198 structural molecule activity TAS 22138302
GO:0005319 lipid transporter activity IDA 17305370
GO:0005515 protein binding IPI 7972031
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

Human Phenotype Ontology for APOE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APOE Gene

MGI Knock Outs for APOE:
  • Apoe Apoe<tm1Lmh>
  • Apoe Apoe<tm4Mae>
  • Apoe Apoe<tm2(APOE*3)Mae>
  • Apoe Apoe<tm1Bres>
  • Apoe Apoe<tm1Unc>
  • Apoe Apoe<tm3(APOE_i4)Yhg>
  • Apoe Apoe<tm1Yhg>

Animal Model Products

miRNA for APOE Gene

Clone Products

  • Addgene plasmids for APOE

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

Localization for APOE Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOE Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOE gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 5
cytoskeleton 2
mitochondrion 2
peroxisome 2
cytosol 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APOE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space ISS --
GO:0005623 cell IEA --
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm NAS,TAS 9622609
genes like me logo Genes that share ontologies with APOE: view

Pathways & Interactions for APOE Gene

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

SIGNOR curated interactions for APOE Gene

Activates:

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:0006357 regulation of transcription by RNA polymerase II TAS --
genes like me logo Genes that share ontologies with APOE: view

Drugs & Compounds for APOE Gene

(84) Drugs for APOE Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
Donepezil Approved Pharma 295
Fluvastatin Approved Pharma Competitive, Inhibitor HMGCR inhibitor 62
Galantamine Approved Pharma Acetylcholinesterase inhibitor 106
Nicotine Approved Pharma Antagonist, Activation, Activator 1188

(54) Additional Compounds for APOE Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Triglycerides Group B
  • 1-Myristoyl-2-pentadecanoyl-3-nervonoyl-glycerol
  • 1-Tetradecanoyl-2-pentadecanoyl-3-(15Z-tetracosanoyl)-glycerol
  • TAG(14:0/15:0/24:1)
  • TAG(53:1)
  • TG(14:0/15:0/24:1)
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group D
  • 2,3-Di(octadecanoyloxy)propyl octadecanoate
  • Glyceryl tristearate
  • Stearic acid triglycerin ester
  • Stearin
  • Trioctadecanoin
620-64-4

(1) ApexBio Compounds for APOE Gene

Compound Action Cas Number
COG 133 ApoE mimetic peptide 514200-66-9
genes like me logo Genes that share compounds with APOE: view

Drug Products

Transcripts for APOE Gene

Unigene Clusters for APOE Gene

Apolipoprotein E:
Representative Sequences:

Clone Products

  • Addgene plasmids for APOE

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for APOE Gene

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

This gene is overexpressed in Liver (x11.9) and Adrenal Gland (x6.5).

Protein differential expression in normal tissues from HIPED for APOE Gene

This gene is overexpressed in Serum (20.4), Lavage (18.4), and Synovial fluid (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APOE Gene



Protein tissue co-expression partners for APOE Gene

NURSA nuclear receptor signaling pathways regulating expression of APOE Gene:

APOE

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.

Evidence on tissue expression from TISSUES for APOE Gene

  • Nervous system(5)
  • Liver(4.9)
  • Blood(4.8)
  • Skin(4.7)
  • Eye(4.6)
  • Kidney(4.6)
  • Lung(4.6)
  • Spleen(3.5)
  • Adrenal gland(3.4)
  • Muscle(3.4)
  • Heart(3.2)
  • Intestine(3.1)
  • Lymph node(3)
  • Bone marrow(2.9)
  • Gall bladder(2.4)
  • Pancreas(2.2)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APOE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
  • heart
  • lung
Abdomen:
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • testicle
  • ureter
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with APOE: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for APOE Gene

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 34 33
  • 98.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APOE 34 33
  • 83.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APOE 34 33
  • 81.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Apoe 16 34 33
  • 78.68 (n)
rat
(Rattus norvegicus)
Mammalia Apoe 33
  • 78.53 (n)
oppossum
(Monodelphis domestica)
Mammalia APOE 34
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOE 34
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apoe 33
  • 43.67 (n)
zebrafish
(Danio rerio)
Actinopterygii apoeb 34
  • 28 (a)
OneToMany
apoea 34
  • 25 (a)
OneToMany
Species where no ortholog for APOE was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for APOE: view image

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

APOE_HUMAN-P02649
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 Variation AA Info Type
rs11083750 association, APOE4 VARIANT 44,908,601(+) C/A/G/T coding_sequence_variant, missense_variant
rs121918392 pathogenic, HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 44,907,777(+) G/A coding_sequence_variant, missense_variant
rs121918393 pathogenic, Familial type 3 hyperlipoproteinemia, Hyperlipoproteinemia 3 (HLPP3) [MIM:617347], Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] 44,908,756(+) C/A/T coding_sequence_variant, missense_variant
rs121918394 pathogenic, Familial type 3 hyperlipoproteinemia, Hyperlipoproteinemia 3 (HLPP3) [MIM:617347], Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] 44,908,786(+) A/C/G coding_sequence_variant, missense_variant
rs121918395 pathogenic, APOE2-DUNEDIN 44,909,032(+) C/A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv1116333 CNV deletion 24896259
nsv509747 CNV insertion 20534489

Variation tolerance for APOE Gene

Residual Variation Intolerance Score: 58.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.28; 81.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOE Gene

Human Gene Mutation Database (HGMD)
APOE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOE

SNP Genotyping and Copy Number Assay Products

Disorders for APOE Gene

MalaCards: The human disease database

(113) MalaCards diseases for APOE Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lipoprotein glomerulopathy
  • lpg
hyperlipoproteinemia, type iii
  • apolipoprotein e, deficiency or defect of
sea-blue histiocyte disease
  • sea-blue histiocytosis
alzheimer disease 2
  • ad2
macular degeneration, age-related, 1
  • armd1
- elite association - COSMIC cancer census association via MalaCards
Search APOE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APOE_HUMAN
  • Hyperlipoproteinemia 3 (HLPP3) [MIM:617347]: 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.
  • Familial hypercholesterolemia (FH) [MIM:143890]: A common autosomal dominant disorder characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. The disorder occurs in 2 clinical forms: a mild form that becomes evident in the fourth or fifth decade in individuals carrying heterozygous LDLR mutations; a more severe form that usually manifests in the first two decades of life in individuals with homozygous LDLR mutations. {ECO:0000269 PubMed:22949395, ECO:0000269 PubMed:24267230, ECO:0000269 PubMed:26802169}. Note=The disease may be 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.
  • 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.
  • Alzheimer disease 2 (AD2) [MIM:104310]: A late-onset form of Alzheimer disease. Alzheimer disease is a 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 constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269 PubMed:8346443}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. The APOE*4 allele (APOE form E4) 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. {ECO:0000269 PubMed:8346443}.

Additional Disease Information for APOE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with APOE: view

No data available for Genatlas for APOE Gene

Publications for APOE Gene

  1. The role of cigarette smoking and statins in the development of postmenopausal osteoporosis: a pilot study utilizing the Marshfield Clinic Personalized Medicine Cohort. (PMID: 19506792) Giampietro PF … Ghebranious N (Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2010) 3 22 44 58
  2. Comparative study of apolipoprotein-E polymorphism and plasma lipid levels in dyslipidemic and asymptomatic subjects, and their implication in cardio/cerebro-vascular disorders. (PMID: 19819279) Ferreira CN … Sousa MO (Neurochemistry international 2010) 3 22 44 58
  3. Apolipoprotein epsilon4 allele is associated with psoriasis severity. (PMID: 19911187) Coto-Segura P … Santos-Juanes J (Archives of dermatological research 2010) 3 22 44 58
  4. Plasma homocysteine, apolipoprotein E status and vascular disease in elderly patients with mental illness. (PMID: 19943806) Nilsson K … Hultberg B (Clinical chemistry and laboratory medicine 2010) 3 22 44 58
  5. Establishing short-term prognosis in Frontotemporal Lobar Degeneration spectrum: role of genetic background and clinical phenotype. (PMID: 18495299) Borroni B … Padovani A (Neurobiology of aging 2010) 3 22 44 58

Products for APOE Gene

  • Addgene plasmids for APOE