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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ABCG4
ATP binding cassette subfamily G member 4
Chromosome 11 · 11q23.3
NCBI Gene: 64137Ensembl: ENSG00000172350.11HGNC: HGNC:13884UniProt: Q9H172
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingATP hydrolysis activityidentical protein bindingprotein homodimerization activityprostate cancerFamilial prostate cancernon-small cell lung carcinomaAlzheimer disease
✦AI Summary

ABCG4 (ATP-binding cassette subfamily G member 4) is a half-transporter protein that functions primarily in cellular cholesterol efflux and lipid homeostasis. The protein consists of a single nucleotide-binding domain followed by six transmembrane segments and shows 72% identity to ABCG1 1. ABCG4 exhibits ATP-dependent transporter activity, functioning as both homodimers and heterodimers with ABCG1 2. The transporter mediates cholesterol efflux from cells to lipidated lipoproteins, working sequentially with ABCA1 to generate cholesterol-rich HDL particles 3. ABCG4 is highly expressed in brain tissue and shows site-specific expression in cerebral cortex and medulla 4. The gene is regulated by oxysterols and retinoids through LXR/RXR nuclear receptors, suggesting involvement in macrophage lipid homeostasis 1. In Alzheimer's disease research, ABCG4 suppresses γ-secretase activity and reduces amyloid-β production by altering γ-secretase distribution in membrane raft domains 5. The transporter also plays roles in megakaryocyte development, where its expression affects cell proliferation and differentiation 6. These findings indicate ABCG4's importance in neuronal cholesterol transport and potential neuroprotective functions.

Sources cited
1
ABCG4 structure as half-transporter with 72% identity to ABCG1 and regulation by oxysterols/retinoids
PMID: 11606068
2
ABCG4 functions as homodimers and heterodimers with ABCG1 with ATP-dependent activity
PMID: 15240127
3
ABCG4 works with ABCA1 to mediate cholesterol efflux and generate cholesterol-rich HDL
PMID: 16902247
4
ABCG4 is highly expressed in brain with site-specific expression in cerebral cortex and medulla
PMID: 18038765
5
ABCG4 suppresses γ-secretase activity and amyloid-β production by altering membrane distribution
PMID: 27196068
6
ABCG4 involvement in megakaryocyte development and differentiation
PMID: 27816548
Disease Associationsⓘ20
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
squamous cell lung carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
ThrombocytosisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
pulmonary alveolar proteinosisOpen Targets
0.01Suggestive
atherosclerosisOpen Targets
0.01Suggestive
malariaOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
adenocarcinomaOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
Japanese encephalitisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABCG8Shared pathway25%SOAT1Shared pathway25%NPC2Shared pathway25%ABCG5Shared pathway23%SOAT2Shared pathway20%HSDL2Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Heart
81%
Ovary
11%
Liver
10%
Lung
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
ABCG4ABCG8SOAT1NPC2ABCG5SOAT2HSDL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H172
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.40–0.69]
RankingsWhere ABCG4 stands among ~20K protein-coding genes
  • #10,903of 20,598
    Most Researched35
  • #5,255of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedABCG4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human ABC transporters ABCG2 (BCRP) and ABCG4.
PMID: 18668433
Xenobiotica · 2008
1.00
2
The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages.
PMID: 11606068
Biochem Biophys Res Commun · 2001
0.90
3
Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4.
PMID: 11856881
Cytogenet Cell Genet · 2001
0.80
4
Functional expression and characterization of the human ABCG1 and ABCG4 proteins: indications for heterodimerization.
PMID: 15240127
Biochem Biophys Res Commun · 2004
0.70
5
ABCG1 and ABCG4 Suppress γ-Secretase Activity and Amyloid β Production.
PMID: 27196068
PLoS One · 2016
0.60