Gene
APOE
apolipoprotein E
- HGNC 613↗(opens in a new tab)
- Ensembl gene ENSG00000130203↗(opens in a new tab)
- NCBI Gene 348↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.32
- Coordinates
- Chromosome 19: 44,905,796–44,909,393 (GRCh38)
- Exons
- 4 exons across 3.6 kb
- Protein
- 317 amino acids
- Previous symbols
- AD2
- MANE Select transcript
- ENST00000252486.9NM_000041.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Alzheimer disease
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Enhanced screening, cognitive engagement, cardiovascular health optimization, anti-amyloid therapies (lecanemab), prevention trial eligibility
Hyperlipidemia
- 2 GenCC submitters rate it definitive or strong
How APOE is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.2 kb of the gene's 3.6 kb; 954 of those bases code for the protein.
How a genome test reads APOE
13
positions in APOE where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 3.6 kb of APOE, introns included, not only the 1.2 kb of exons.
Genes linked to the same conditions
- APOA5apolipoprotein A5Shares 1 condition
- APOBapolipoprotein BShares 1 condition
- APOC2apolipoprotein C2Shares 1 condition
- APPamyloid beta precursor proteinShares 1 condition
- CETPcholesteryl ester transfer proteinShares 1 condition
- GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1Shares 1 condition
- LDLRlow density lipoprotein receptorShares 1 condition
- LDLRAP1low density lipoprotein receptor adaptor protein 1Shares 1 condition
- LIPClipase C, hepatic typeShares 1 condition
- LPLlipoprotein lipaseShares 1 condition
- PCSK9proprotein convertase subtilisin/kexin type 9Shares 1 condition
- PSEN1presenilin 1Shares 1 condition
Traits linked to APOE
The Human Phenotype Ontology lists these as features of the rare conditions APOE can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Lack of feeling, emotion, interest
- Memory impairment
- Neurofibrillary tangles
- Temporal cortical atrophy
- Aggressive behavior
- Alzheimer disease
- Apraxia
- Confusion
Show 21 more traits
- Dementia
- Generalized-onset seizure
- Jerking
- Word-finding difficulty
- Disturbed sensory perception
- Abnormal gait
- Abnormality of extrapyramidal motor function
- Babinski sign
- Cognitive impairment
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Difficulty articulating speech
- Dystonia
- Epilepsy
- Long-tract sign
- Optic ataxia
- Overactive lower leg reflex
- Parietal hypometabolism in FDG PET
- Parkinsonism
- Personality changes
- Senile plaques
- Sleep-wake cycle disturbance
Laboratory abnormality
- Cerebral amyloid angiopathy
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Decreased circulating high-density lipoprotein cholesterol
- Elevated serum cholesterol
- Increased circulating LDL level
- Increased plasma triglycerides
- Diabetes mellitus
Abnormality of the cardiovascular system
- Foam cells
- Increased spleen size
- Lipemia retinalis
- Type IV atherosclerotic lesion
- Accelerated plaque build-up in arteries
- Angina pectoris
- Aortic atherosclerotic lesion
- Peripheral arterial stenosis
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). APOE gene: apolipoprotein E. Retrieved 17 October 2026, from https://dantelabs.com/genes/apoe
Dante Labs. APOE gene: apolipoprotein E [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/apoe
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