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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABCD2
ATP binding cassette subfamily D member 2
Chromosome 12 · 12q12
NCBI Gene: 225Ensembl: ENSG00000173208.5HGNC: HGNC:66UniProt: Q9UBJ2
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ATPase-coupled transmembrane transporter activityfatty acid beta-oxidationprotein homodimerization activityperoxisomecervical carcinomapulmonary vascular congestionAlzheimer diseaseinfection
✦AI Summary

ABCD2 (ATP binding cassette subfamily D member 2) is an ATP-dependent transporter that facilitates the transport of very long-chain fatty acids (VLCFAs) from the cytosol into peroxisomes for β-oxidation 12. The protein functions by hydrolyzing VLCFA-CoA substrates through its fatty acyl-CoA thioesterase activity, then transporting the free VLCFAs into peroxisomes in an ATP-dependent manner 2. ABCD2 shows overlapping substrate specificities with the related transporter ABCD1 but has distinct preferences for shorter VLCFAs (C22:0) and polyunsaturated fatty acids such as C22:6-CoA and C24:6-CoA 1. This substrate specificity positions ABCD2 as a key regulator of VLCFA metabolism and energy homeostasis through peroxisomal β-oxidation 1. ABCD2 has therapeutic relevance for X-linked adrenoleukodystrophy, where upregulation of ABCD2 expression can compensate for deficient ABCD1 function and restore peroxisomal β-oxidation capacity 3. The gene's expression can be induced by various compounds including LXR antagonists and 22S-hydroxycholesterol, making it a potential therapeutic target for neurodegenerative disorders involving peroxisomal dysfunction 3. Note: Several abstracts discuss the ABCD2 clinical scoring system for stroke risk, which is unrelated to this gene.

Sources cited
1
ABCD2 is involved in VLCFA transport and has distinct substrate preferences for shorter VLCFAs and polyunsaturated fatty acids
PMID: 21145416
2
ABCD2 has fatty acyl-CoA thioesterase and ATPase activities and transports VLCFAs in an ATP-dependent manner
PMID: 29397936
3
ABCD2 upregulation can compensate for ABCD1 deficiency in X-linked adrenoleukodystrophy and can be induced by LXR antagonists and oxysterols
PMID: 24480443
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
cervical carcinomaOpen Targets
0.32Weak
pulmonary vascular congestionOpen Targets
0.14Weak
Alzheimer diseaseOpen Targets
0.11Weak
infectionOpen Targets
0.10Weak
hemorrhageOpen Targets
0.08Suggestive
X-linked adrenoleukodystrophyOpen Targets
0.07Suggestive
gastric ulcerOpen Targets
0.06Suggestive
spinocerebellar ataxia type 17Open Targets
0.05Suggestive
transient ischemic attackOpen Targets
0.05Suggestive
strokeOpen Targets
0.05Suggestive
behavioral variant of frontotemporal dementiaOpen Targets
0.05Suggestive
amyotrophic lateral sclerosisOpen Targets
0.05Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.05Suggestive
inherited Creutzfeldt-Jakob diseaseOpen Targets
0.05Suggestive
spinocerebellar ataxia type 35Open Targets
0.05Suggestive
adrenoleukodystrophyOpen Targets
0.05Suggestive
Young adult-onset ParkinsonismOpen Targets
0.05Suggestive
spastic ataxia 2Open Targets
0.05Suggestive
spinocerebellar ataxia type 12Open Targets
0.05Suggestive
spastic ataxia 10, autosomal recessiveOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEX19Protein interaction95%SLC27A2Protein interaction93%ACSBG1Protein interaction90%PEX13Protein interaction84%ABCD1Protein interaction81%PEX11BProtein interaction81%
Tissue Expression6 tissues
Heart
100%
Brain
52%
Bone Marrow
7%
Lung
2%
Ovary
1%
Liver
1%
Gene Interaction Network
Click a node to explore
ABCD2PEX19SLC27A2ACSBG1PEX13ABCD1PEX11B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UBJ2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.40–0.71]
RankingsWhere ABCD2 stands among ~20K protein-coding genes
  • #11,278of 20,598
    Most Researched33
  • #5,489of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedABCD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Diagnosis and Management of Transient Ischemic Attack and Acute Ischemic Stroke: A Review.
PMID: 33724327
JAMA · 2021
1.00
2
An integrated machine learning framework for developing and validating a diagnostic model of major depressive disorder based on interstitial cystitis-related genes.
PMID: 38754597
J Affect Disord · 2024
0.90
3
Regulation of the adrenoleukodystrophy-related gene (ABCD2): focus on oxysterols and LXR antagonists.
PMID: 24480443
Biochem Biophys Res Commun · 2014
0.80
4
HINTS outperforms ABCD2 to screen for stroke in acute continuous vertigo and dizziness.
PMID: 24127701
Acad Emerg Med · 2013
0.70
5
Definition and evaluation of transient ischemic attack: a scientific statement for healthcare professionals from the American Heart Association/American Stroke Association Stroke Council; Council on Cardiovascular Surgery and Anesthesia; Council on Cardiovascular Radiology and Intervention; Council on Cardiovascular Nursing; and the Interdisciplinary Council on Peripheral Vascular Disease. The American Academy of Neurology affirms the value of this statement as an educational tool for neurologists.
PMID: 19423857
Stroke · 2009
0.60