ABCA2
Chr 9ARATP binding cassette subfamily A member 2
Also known as: ABC2, IDPOGSA
ABCA2 encodes an ATP-binding cassette transporter that regulates cholesterol homeostasis by modulating sphingolipid metabolism in late endosomes and lysosomes, and may play a role in myelin formation. Biallelic mutations cause autosomal recessive intellectual developmental disorder with poor growth and with or without seizures or ataxia. The gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 1 | 0 | 1 |
Likely Pathogenic | 1 | 0 | 0 | 0 | 1 |
VUS | 0 | 30 | 0 | 0 | 30 |
Likely Benign | 0 | 4 | 1 | 6 | 11 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 34 | 2 | 6 | 43 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ABCA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools