ABCA7 Gene

HGNC Family	ATP binding cassette transporters (ABC)
Name	ATP-binding cassette, sub-family A (ABC1), member 7
Description	The 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 intra-cellular 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 full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ATP‐binding cassette transporter A7 (ABCA7) is an integral membrane protein highly expressed in the brain – in neurons, microglia, and other cell types – where it plays a multifaceted role in lipid metabolism and cellular homeostasis. Functional studies indicate that ABCA7 preferentially mediates the efflux of phospholipids such as phosphatidylserine and binds apolipoproteins to facilitate the generation of lipidated particles, a process that is mechanistically distinct from its close homolog ABCA1 [(1,4,5,6)]. Beyond its role in lipid transport, ABCA7 has been implicated in the regulation of phagocytosis and membrane remodeling. Loss‐of‐function studies in both cell culture and animal models demonstrate that reduced ABCA7 expression impairs phagocytic clearance and elevates amyloidogenic processing of the amyloid precursor protein (APP), thereby promoting β–secretase activity, increasing Aβ production, and exacerbating amyloid plaque deposition [(3,7,10)]. In addition, alterations in epigenetic marks at the ABCA7 locus are associated with Alzheimer’s disease (AD) neuropathology, suggesting that dysregulation of ABCA7 expression may serve as an early event in AD pathogenesis [(8,9,12)]. Genome‐wide association studies across diverse populations have robustly linked both common and rare loss‐of‐function variants in ABCA7 with heightened susceptibility to late‐onset and posterior cortical atrophy forms of AD [(1,2,11,12)]. Collectively, these findings support a model in which ABCA7 contributes to neuronal lipid homeostasis and effective phagocytic clearance of cellular debris, thereby modulating APP processing and Aβ accumulation – key processes underlying the etiology of AD.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n "}, {"type": "b", "children": [{"type": "t", "text": "References:"}]}, {"type": "t", "text": "<br>\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", \n (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", \n (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", \n (4)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", \n (5)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", \n (6)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", \n (7)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ", \n (8)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ", \n (9)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ", \n (10)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": ", \n (11)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": ", \n (12)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Paul Hollingworth, Denise Harold, Rebecca Sims, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.803"}], "href": "https://doi.org/10.1038/ng.803"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21460840"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21460840"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christiane Reitz, Gyungah Jun, Adam Naj, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "JAMA (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/jama.2013.2973"}], "href": "https://doi.org/10.1001/jama.2013.2973"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23571587"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23571587"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Woojin S Kim, Hongyun Li, Kalani Ruberu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deletion of Abca7 increases cerebral amyloid-β accumulation in the J20 mouse model of Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.4165-12.2013"}], "href": "https://doi.org/10.1523/JNEUROSCI.4165-12.2013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23467355"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23467355"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Faraz Quazi, Robert S Molday "}, {"type": "b", "children": [{"type": "t", "text": "Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M113.508812"}], "href": "https://doi.org/10.1074/jbc.M113.508812"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24097981"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24097981"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Nan Wang, Debin Lan, Marie Gerbod-Giannone, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M307831200"}], "href": "https://doi.org/10.1074/jbc.M307831200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12917409"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12917409"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sumiko Abe-Dohmae, Yuika Ikeda, Michinori Matsuo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M309888200"}], "href": "https://doi.org/10.1074/jbc.M309888200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14570867"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14570867"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Elise Cuyvers, Arne De Roeck, Tobi Van den Bossche, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Lancet Neurol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S1474-4422(15)00133-7"}], "href": "https://doi.org/10.1016/S1474-4422(15"}, {"type": "t", "text": "00133-7) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26141617"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26141617"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Philip L De Jager, Gyan Srivastava, Katie Lunnon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Neurosci (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nn.3786"}], "href": "https://doi.org/10.1038/nn.3786"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25129075"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25129075"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Arne De Roeck, Christine Van Broeckhoven, Kristel Sleegers "}, {"type": "b", "children": [{"type": "t", "text": "The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Neuropathol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00401-019-01994-1"}], "href": "https://doi.org/10.1007/s00401-019-01994-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30903345"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30903345"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Nobutaka Sakae, Chia-Chen Liu, Mitsuru Shinohara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ABCA7 Deficiency Accelerates Amyloid-β Generation and Alzheimer's Neuronal Pathology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.3757-15.2016"}], "href": "https://doi.org/10.1523/JNEUROSCI.3757-15.2016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27030769"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27030769"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Jonathan M Schott, Sebastian J Crutch, Minerva M Carrasquillo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Alzheimers Dement (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jalz.2016.01.010"}], "href": "https://doi.org/10.1016/j.jalz.2016.01.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26993346"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26993346"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Jared B Vasquez, David W Fardo, Steven Estus "}, {"type": "b", "children": [{"type": "t", "text": "ABCA7 expression is associated with Alzheimer's disease polymorphism and disease status."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurosci Lett (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neulet.2013.09.058"}], "href": "https://doi.org/10.1016/j.neulet.2013.09.058"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24141082"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24141082"}]}]}]}
Synonyms	ABCX, ABCA-SSN, AD9
Proteins	ABCA7_HUMAN
NCBI Gene ID	10347
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ABCA7 has 7,135 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 121 datasets.

Click the + buttons to view associations for ABCA7 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ABCA7 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by ABCA7 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ABCA7 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ABCA7 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ABCA7 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ABCA7 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ABCA7 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ABCA7 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ABCA7 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ABCA7 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ABCA7 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ABCA7 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ABCA7 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ABCA7 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ABCA7 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ABCA7 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ABCA7 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ABCA7 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ABCA7 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ABCA7 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ABCA7 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ABCA7 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ABCA7 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ABCA7 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with ABCA7 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ABCA7 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ABCA7 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ABCA7 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ABCA7 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ABCA7 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ABCA7 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ABCA7 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ABCA7 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ABCA7 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ABCA7 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ABCA7 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ABCA7 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ABCA7 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ABCA7 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with ABCA7 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with ABCA7 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.