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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABCA9
ATP binding cassette subfamily A member 9
Chromosome 17 · 17q24.2
NCBI Gene: 10350Ensembl: ENSG00000154258.17HGNC: HGNC:39UniProt: Q8IUA7
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipid carrier activityATPase-coupled transmembrane transporter activitylipid transporttransmembrane transportHypercholesterolemiagoutadolescent idiopathic scoliosisbreast cancer
✦AI Summary

ABCA9 is an ATP-binding cassette transporter primarily localized to the endoplasmic reticulum (ER) that functions as a cholesterol transporter involved in lipid homeostasis 1. The protein consists of two transmembrane domains and two nucleotide binding folds characteristic of full-size ABC transporters 2. ABCA9 expression is induced during monocyte differentiation and is cholesterol-responsive, suggesting a role in macrophage lipid homeostasis 2. Mechanistically, ABCA9 promotes cholesterol accumulation in the ER and suppresses sterol-regulatory element binding protein-2 (SREBP-2) translocation from the ER to the nucleus, thereby inhibiting cholesterol synthesis gene expression 1. In endothelial cells, ABCA9 activates AKT signaling to promote cell proliferation and angiogenesis 3. Clinically, ABCA9 shows significant disease relevance. Expression is downregulated in breast cancers and correlates with poor prognosis 1. High ABCA9 expression associates with reduced survival in serous ovarian cancer patients 4. Conversely, ABCA9 restoration in breast cancer cells suppresses cell proliferation and colony formation via SREBP-2 inhibition 1, suggesting potential therapeutic value. ABCA9 is also downregulated in lung adenocarcinoma and correlates with TP53 mutations 5. Additionally, ABCA9 is implicated in papillary thyroid cancer progression through miRNA-mediated regulation 6.

Sources cited
1
ABCA9 is an ER cholesterol transporter that inhibits breast cancer proliferation by suppressing SREBP-2 signaling and cholesterol synthesis
PMID: 36576228
2
ABCA9 molecular structure, chromosomal location, expression patterns, and role in monocyte differentiation and cholesterol-responsive lipid homeostasis
PMID: 12150964
3
ABCA9 activates AKT signaling to promote endothelial cell proliferation and angiogenesis
PMID: 36165221
4
High ABCA9 expression associates with poor survival outcomes in serous epithelial ovarian cancer
PMID: 24957074
5
ABCA9 is downregulated in lung adenocarcinoma and correlates with TP53 mutation status
PMID: 35759117
6
ABCA9 is regulated by the hsa_circ_0039411/miR-1179 axis in papillary thyroid cancer progression
PMID: 31270819
Disease Associationsⓘ20
HypercholesterolemiaOpen Targets
0.35Weak
goutOpen Targets
0.30Weak
adolescent idiopathic scoliosisOpen Targets
0.22Weak
breast cancerOpen Targets
0.08Suggestive
metabolic diseaseOpen Targets
0.07Suggestive
hyperlipidemiaOpen Targets
0.07Suggestive
major depressive disorderOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
response to statinOpen Targets
0.05Suggestive
tooth diseaseOpen Targets
0.05Suggestive
familial hyperlipidemiaOpen Targets
0.05Suggestive
cancerOpen Targets
0.03Suggestive
Down syndromeOpen Targets
0.02Suggestive
Abdominal Aortic AneurysmOpen Targets
0.02Suggestive
Disorder of lipid metabolismOpen Targets
0.02Suggestive
venous thromboembolismOpen Targets
0.02Suggestive
hearing loss, mixed conductive-sensorineuralOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
uterine leiomyosarcomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABCA10Shared pathway100%ABCA6Protein interaction87%SPNS1Shared pathway50%ESYT3Shared pathway50%APOL6Shared pathway50%ESYT2Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Heart
50%
Liver
37%
Lung
21%
Brain
6%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ABCA9ABCA10ABCA6SPNS1ESYT3APOL6ESYT2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8IUA7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.76–1.01]
RankingsWhere ABCA9 stands among ~20K protein-coding genes
  • #15,477of 20,598
    Most Researched15
  • #9,770of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedABCA9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ABCA9, an ER cholesterol transporter, inhibits breast cancer cell proliferation via SREBP-2 signaling.
PMID: 36576228
Cancer Sci · 2023
1.00
2
Expression analysis of PPAR-related lncRNAs in breast cancer.
PMID: 37820438
Pathol Res Pract · 2023
0.90
3
Hsa_circ_0039411 promotes tumorigenesis and progression of papillary thyroid cancer by miR-1179/ABCA9 and miR-1205/MTA1 signaling pathways.
PMID: 31270819
J Cell Physiol · 2020
0.80
4
Co-culture with chorionic villous mesenchymal stem cells promotes endothelial cell proliferation and angiogenesis via ABCA9-AKT pathway.
PMID: 36165221
FASEB J · 2022
0.70
5
Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9.
PMID: 12150964
Biochem Biophys Res Commun · 2002
0.60