APOE apolipoprotein E
Gene ID: 348, updated on 22-Apr-2024Gene type: protein coding
Also known as: AD2; LPG; APO-E; ApoE4; LDLCQ5
- See all available tests in GTR for this gene
- Go to complete Gene record for APOE
- Go to Variation Viewer for APOE variants
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 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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. GeneReviews: Not available | |
| A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol. GeneReviews: Not available | |
| A genome-wide scan for common variants affecting the rate of age-related cognitive decline. GeneReviews: Not available | |
| A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. GeneReviews: Not available | |
| ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. GeneReviews: Not available | |
| Age related macular degeneration 1 | See labs |
| Alzheimer disease 2 | See labs |
| Alzheimer disease 3 | See labs |
| Alzheimer disease 4 | See labs |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. GeneReviews: Not available | |
| Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore? GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. GeneReviews: Not available | |
| Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. GeneReviews: Not available | |
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Examination of the current top candidate genes for AD in a genome-wide association study. GeneReviews: Not available | |
| Familial type 3 hyperlipoproteinemia | See labs |
| Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. GeneReviews: Not available | |
| Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. GeneReviews: Not available | |
| Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. GeneReviews: Not available | |
| Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. GeneReviews: Not available | |
| Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. GeneReviews: Not available | |
| Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide analysis of genetic loci associated with Alzheimer disease. GeneReviews: Not available | |
| Genome-wide association analysis of age-at-onset in Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. GeneReviews: Not available | |
| Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. GeneReviews: Not available | |
| Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. GeneReviews: Not available | |
| Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited. GeneReviews: Not available | |
| Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
| Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide association study of Alzheimer's disease with psychotic symptoms. GeneReviews: Not available | |
| Genome-wide association study of Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. GeneReviews: Not available | |
| Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. GeneReviews: Not available | |
| Genome-wide scan of copy number variation in late-onset Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. GeneReviews: Not available | |
| GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. GeneReviews: Not available | |
| High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. GeneReviews: Not available | |
| Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. GeneReviews: Not available | |
| Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available | |
| Lipoprotein glomerulopathy | See labs |
| Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. GeneReviews: Not available | |
| Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. GeneReviews: Not available | |
| Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. GeneReviews: Not available | |
| Newly identified loci that influence lipid concentrations and risk of coronary artery disease. GeneReviews: Not available | |
| Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available | |
| Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. GeneReviews: Not available | |
| Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. GeneReviews: Not available | |
| Sea-blue histiocyte syndrome | See labs |
| Seven new loci associated with age-related macular degeneration. GeneReviews: Not available | |
| Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. GeneReviews: Not available | |
| Sorl1 as an Alzheimer's disease predisposition gene? GeneReviews: Not available | |
| SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. GeneReviews: Not available | |
| SUCLG2 identified as both a determinator of CSF Aß1-42-levels and an attenuator of cognitive decline in Alzheimer's disease. GeneReviews: Not available | |
| The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.32
- Sequence:
- Chromosome: 19; NC_000019.10 (44905796..44909393)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for APOE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/APOE genetic mutations
- APOE database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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