Version: 8.0.0Date: Tue Jan 28 2025
Gene
APOE
- Species
- Homo sapiens
- Symbol
- APOE
- Name
- apolipoprotein E
- Synonyms
- AD2
- Alzheimer disease 2 (APOE*E4-associated, late onset)
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including amyloid-beta binding activity; heparan sulfate proteoglycan binding activity; and lipoprotein particle receptor binding activity. Involved in several processes, including plasma lipoprotein particle organization; regulation of lipid transport; and regulation of primary metabolic process. Acts upstream of or within with a positive effect on AMPA glutamate receptor clustering and NMDA glutamate receptor clustering. Acts upstream of or within negative regulation of dendritic spine development; positive regulation of dendritic spine development; and regulation of dendritic spine maintenance. Located in several cellular components, including Golgi apparatus; cytoplasmic vesicle; and extracellular exosome. Part of several cellular components, including chylomicron; intermediate-density lipoprotein particle; and low-density lipoprotein particle. Is active in several cellular components, including chylomicron remnant; synaptic cleft; and very-low-density lipoprotein particle. Implicated in several diseases, including Alzheimer's disease (multiple); artery disease (multiple); biliary tract cancer (multiple); eye disease (multiple); and familial hyperlipidemia (multiple). Biomarker of several diseases, including Lewy body dementia; diabetes mellitus (multiple); end stage renal disease; neurodegenerative disease (multiple); and obesity.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR18976
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr19:44905791...44909393 + (3.60 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.