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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ABCA2
ATP binding cassette subfamily A member 2
Chromosome 9 Β· 9q34.3
NCBI Gene: 20Ensembl: ENSG00000107331.19HGNC: HGNC:32UniProt: Q9BZC7
68PubMed Papers
21Diseases
0Drugs
14Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of amyloid precursor protein catabolic processintracellular sphingolipid homeostasisregulation of intracellular cholesterol transportcholesterol homeostasisintellectual developmental disorder with poor growth and with or without seizures or ataxiaautosomal recessive non-syndromic intellectual disabilitycutaneous mastocytosislymphatic system disease
✦AI Summary

ABCA2 is a large ATP-binding cassette transporter primarily localized to endolysosomal membranes that plays a crucial role in lipid homeostasis 1. The protein functions as a probable lipid transporter that modulates cholesterol sequestration in late endosomes/lysosomes by regulating intracellular sphingolipid metabolism, thereby participating in cholesterol homeostasis 2. ABCA2 appears to alter the transbilayer distribution of ceramide, facilitating ceramide deacylation to sphingosine and leading to cholesterol sequestration in lysosomes 2. The transporter is most highly expressed in brain tissue and macrophages, where it shows sterol-dependent regulation and is coordinately expressed with other cholesterol-responsive genes 3. ABCA2 has been implicated in multiple disease processes, including drug resistance in cancer cells, where overexpression confers resistance to compounds like estramustine and mitoxantrone 4. Additionally, a single nucleotide polymorphism in ABCA2 has been linked to early-onset Alzheimer's disease, with the transporter influencing amyloid-beta peptide levels 4. The protein is also expressed in myelinating cells and may play a role in myelin formation, as suggested by its expression in oligodendrocytes and Schwann cells 5.

Sources cited
1
ABCA2 is localized to endolysosomal membranes and is the largest known mammalian ABC transporter
PMID: 11309290
2
ABCA2 functions in cholesterol trafficking and sphingolipid metabolism
PMID: 17266523
3
ABCA2 is sterol-responsive and coordinately expressed with cholesterol homeostasis genes in macrophages
PMID: 11178988
4
ABCA2 confers drug resistance in cancer cells and is linked to early-onset Alzheimer's disease
PMID: 17029687
5
ABCA2 is expressed in myelinating cells including oligodendrocytes and Schwann cells
PMID: 15850583
Disease Associationsβ“˜21
intellectual developmental disorder with poor growth and with or without seizures or ataxiaOpen Targets
0.74Strong
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
cutaneous mastocytosisOpen Targets
0.23Weak
lymphatic system diseaseOpen Targets
0.20Weak
MastocytosisOpen Targets
0.17Weak
Alzheimer diseaseOpen Targets
0.08Suggestive
Paroxysmal exertion-induced dyskinesiaOpen Targets
0.06Suggestive
Huntington disease-like syndrome due to C9ORF72 expansionsOpen Targets
0.06Suggestive
spinocerebellar ataxia type 20Open Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.06Suggestive
spinocerebellar ataxia type 15/16Open Targets
0.06Suggestive
Spinocerebellar ataxia type 40Open Targets
0.06Suggestive
Rapid-onset dystonia-parkinsonismOpen Targets
0.05Suggestive
atypical pantothenate kinase-associated neurodegenerationOpen Targets
0.05Suggestive
Huntington disease-like 2Open Targets
0.05Suggestive
spinocerebellar ataxia type 12Open Targets
0.05Suggestive
spinocerebellar ataxia type 35Open Targets
0.05Suggestive
Young adult-onset ParkinsonismOpen Targets
0.05Suggestive
dermatitisOpen Targets
0.05Suggestive
Eczematoid dermatitisOpen Targets
0.05Suggestive
Intellectual developmental disorder with poor growth and with or without seizures or ataxiaUniProt
Pathogenic Variants14
NM_001606.5(ABCA2):c.6630_6630+1delPathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜…β˜…β˜†β˜†2025
NM_001606.5(ABCA2):c.5924-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001606.5(ABCA2):c.650dup (p.Gly218fs)Pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜…β˜†β˜†β˜†2024β†’ Residue 218
NM_001606.5(ABCA2):c.937C>T (p.Gln313Ter)Pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜…β˜†β˜†β˜†2024β†’ Residue 313
NM_001606.5(ABCA2):c.672del (p.Met225fs)Pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜…β˜†β˜†β˜†2023β†’ Residue 225
NM_001606.5(ABCA2):c.5923+1G>ALikely pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜…β˜†β˜†β˜†2023
NM_001606.5(ABCA2):c.1703G>A (p.Trp568Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 568
NM_001606.5(ABCA2):c.4108C>T (p.Gln1370Ter)Likely pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜…β˜†β˜†β˜†2022β†’ Residue 1370
NM_001606.5(ABCA2):c.846del (p.Leu283fs)Likely pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜…β˜†β˜†β˜†2021β†’ Residue 283
NM_001606.5(ABCA2):c.4213C>T (p.Gln1405Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 1405
NM_001606.5(ABCA2):c.4903del (p.Val1635fs)Pathogenic
Ataxia with Dysarthria|not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 1635
NM_001606.5(ABCA2):c.4015_4016insA (p.Ser1339fs)Likely pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜…β˜†β˜†β˜†β†’ Residue 1339
NM_001606.5(ABCA2):c.1850del (p.Ser617fs)Pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜…β˜†β˜†β˜†β†’ Residue 617
NM_001606.5(ABCA2):c.4537_4547delinsG (p.Arg1513fs)Pathogenic
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
β˜†β˜†β˜†β˜†2020β†’ Residue 1513
View on ClinVar β†—
Related Genes
ATP1B1Protein interaction96%ATP1B3Protein interaction86%SLC9A1Protein interaction85%ATP1B2Protein interaction84%PLNProtein interaction80%ATP2A2Protein interaction79%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
46%
Liver
30%
Heart
19%
Lung
14%
Ovary
9%
Gene Interaction Network
Click a node to explore
ABCA2ATP1B1ATP1B3SLC9A1ATP1B2PLNATP2A2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BZC7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.44Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.36 [0.30–0.44]
RankingsWhere ABCA2 stands among ~20K protein-coding genes
  • #6,871of 20,598
    Most Researched68
  • #2,518of 5,498
    Most Pathogenic Variants14
  • #2,364of 17,882
    Most Constrained (LOEUF)0.44 Β· top quartile
Genes detectedABCA2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
1.00
2
ATP-binding cassette transporter-2 (ABCA2) as a therapeutic target.
PMID: 29223352
Biochem Pharmacol Β· 2018
0.90
3
The ABCA2 transporter: intracellular roles in trafficking and metabolism of LDL-derived cholesterol and sterol-related compounds.
PMID: 17266523
Curr Drug Metab Β· 2007
0.80
4
ABCA2 as a therapeutic target in cancer and nervous system disorders.
PMID: 18348684
Expert Opin Ther Targets Β· 2008
0.70
5
The ATP-binding cassette transporter ABCA2 as a mediator of intracellular trafficking.
PMID: 17029687
Biomed Pharmacother Β· 2006
0.60