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ATP binding cassette subfamily A member 2
Also known as: ABC2, IDPOGSA
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
767 submitted variants in ClinVar
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 0 | 34 | 0 | 36 |
Likely Pathogenic | 4 | 0 | 1 | 0 | 5 |
VUS | 0 | 347 | 8 | 2 | 357 |
Likely Benign | 0 | 12 | 3 | 23 | 38 |
Benign | 0 | 0 | 0 | 1 | 1 |
Conflicting | — | 2 | |||
| Total | 6 | 359 | 46 | 26 | 439 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →ABCA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia
moderateGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
1 OMIM entry
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
MIM #618808Molecular basis of disorder known
Links to major genomics databases and tools
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Links to major genomics databases and tools