Gene
ANGPTL3
angiopoietin like 3
- HGNC 491(opens in a new tab)
- Ensembl gene ENSG00000132855(opens in a new tab)
- NCBI Gene 27329(opens in a new tab)
Summary
- Cytogenetic location
- 1p31.3
- Coordinates
- Chromosome 1: 62,597,520–62,606,313 (GRCh38)
- Exons
- 7 exons across 8.8 kb
- Protein
- 460 amino acids
- Inheritance
- Autosomal recessive
- Previous symbols
- ANGPT5
- MANE Select transcript
- ENST00000371129.4NM_014495.4
- 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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Hereditary Hypolipoproteinemias
- HypobetalipoproteinemiaAutosomal recessive
Includes abetalipoproteinemia (MTTP), familial hypobetalipoproteinemia (APOB, ANGPTL3) and chylomicron retention disease (SAR1B); severe forms cause fat malabsorption and vitamin E deficiency leading to nerve and retinal damage, while mild carrier forms can simply lower LDL cholesterol and may increase liver fat.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows a low-fat diet with high-dose vitamin E and other fat-soluble vitamins in the severe forms, which can prevent or limit nerve and eye damage.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ANGPTL3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.9 kb of the gene's 8.8 kb; 1,383 of those bases code for the protein.
How a genome test reads ANGPTL3
4
positions in ANGPTL3 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 8.8 kb of ANGPTL3, introns included, not only the 2.9 kb of exons.
Traits linked to ANGPTL3
The Human Phenotype Ontology lists these as features of the rare conditions ANGPTL3 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 2026-10-16: 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.). ANGPTL3 gene: angiopoietin like 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/angptl3
Dante Labs. ANGPTL3 gene: angiopoietin like 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/angptl3
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