Gene
ABCA2
ATP binding cassette subfamily A member 2
- HGNC 32↗(opens in a new tab)
- Ensembl gene ENSG00000107331↗(opens in a new tab)
- NCBI Gene 20↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.3
- Coordinates
- Chromosome 9: 137,007,234–137,028,237 (GRCh38)
- Exons
- 49 exons across 21 kb
- Protein
- 2,436 amino acids
- Previous symbols
- ABC2
- MANE Select transcript
- ENST00000341511.11NM_001606.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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No Genome Test report reads ABCA2 yet. The test sequences your whole genome, so your data includes it all the same.
How ABCA2 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 8.1 kb of the gene's 21 kb; 7,311 of those bases code for the protein.
How a genome test reads ABCA2
12
positions in ABCA2 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 21 kb of ABCA2, introns included, not only the 8.1 kb of exons.
Traits linked to ABCA2
The Human Phenotype Ontology lists these as features of the rare conditions ABCA2 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.
- 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.). ABCA2 gene: ATP binding cassette subfamily A member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/abca2
Dante Labs. ABCA2 gene: ATP binding cassette subfamily A member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/abca2
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