Gene
APOA4
apolipoprotein A4
- HGNC 602↗(opens in a new tab)
- Ensembl gene ENSG00000110244↗(opens in a new tab)
- NCBI Gene 337↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q23.3
- Coordinates
- Chromosome 11: 116,820,700–116,823,304 (GRCh38)
- Exons
- 3 exons across 2.6 kb
- Protein
- 396 amino acids
- MANE Select transcript
- ENST00000357780.5NM_000482.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Hereditary Amyloidosis
- Autosomal dominant
Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII).
- 1 GenCC submitter rates it definitive or strong
▶Actionability
Tafamidis (kinetic stabilizer), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisense), liver transplantation
How APOA4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
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 1.5 kb of the gene's 2.6 kb; 1,191 of those bases code for the protein.
Sequencing APOA4
4Low
How hard APOA4 is to sequence with short reads, out of 100Each bar is the share of APOA4's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.4.4%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.38%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
Genes linked to the same conditions
- APOA1apolipoprotein A1Shares 1 condition
- APPamyloid beta precursor proteinShares 1 condition
- B2Mbeta-2-microglobulinShares 1 condition
- CST3cystatin CShares 1 condition
- FGAfibrinogen alpha chainShares 1 condition
- GPNMBglycoprotein nmbShares 1 condition
- GSNgelsolinShares 1 condition
- ITM2Bintegral membrane protein 2BShares 1 condition
- LYZlysozymeShares 1 condition
- OSMRoncostatin M receptorShares 1 condition
- TTRtransthyretinShares 1 condition
Traits linked to APOA4
The Human Phenotype Ontology lists these as features of the rare conditions APOA4 can cause. Each trait's page lists the other genes linked to it.
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 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). APOA4 gene: apolipoprotein A4. Retrieved 18 October 2026, from https://dantelabs.com/genes/apoa4
Dante Labs. APOA4 gene: apolipoprotein A4 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/apoa4
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