ABCC9 Gene

HGNC Family	ATP binding cassette transporters (ABC)
Name	ATP-binding cassette, sub-family C (CFTR/MRP), member 9
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 MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The ABCC9 gene encodes the sulfonylurea receptor 2 (SUR2), a key regulatory subunit of ATP‐sensitive potassium (K<sub>ATP</sub>) channels that couple intracellular energy status to membrane excitability in multiple tissues. In the heart, ABCC9 is essential for high‐fidelity metabolic sensing; mutations affecting its conserved domains can disrupt the catalytic ATPase cycle and impair channel gating, thereby reducing stress tolerance and predisposing individuals to dilated cardiomyopathy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In contrast, dominant gain‐of‐function mutations in ABCC9 lead to excessive channel opening and are causally linked to Cantú syndrome—a multisystem disorder characterized by hypertrichosis, distinct facial dysmorphisms, skeletal anomalies, and cardiac defects."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "4"}]}, {"type": "t", "text": " Beyond its cardiovascular roles, ABCC9 has emerged as an important modulator in the central nervous system. An intronic variant in ABCC9 has been linked to variations in sleep duration, highlighting its function as a sensor of intracellular metabolism in neuronal cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, multiple studies have associated ABCC9 genetic polymorphisms with hippocampal sclerosis of aging and related neurodegenerative phenotypes. Evidence suggests that risk alleles may alter transcript expression and promote the usage of a shorter 3′ untranslated region—possibly through differential microRNA regulation—thereby contributing to pathogenic processes in aged brain tissue."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore the pivotal role of ABCC9 in linking cellular metabolic state to electrical and functional responses in diverse organ systems. Its contribution to cardiac disease via impaired or excessive K<sub>ATP</sub> channel activity, along with its emerging impact on sleep regulation and neurodegeneration, establishes ABCC9 as an attractive target for therapeutic intervention in cardiovascular and age‐related neurological disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Martin Bienengraeber, Timothy M Olson, Vitaliy A Selivanov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1329"}], "href": "https://doi.org/10.1038/ng1329"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15034580"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15034580"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Magdalena Harakalova, Jeske J T van Harssel, Paulien A Terhal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dominant missense mutations in ABCC9 cause Cantú syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2324"}], "href": "https://doi.org/10.1038/ng.2324"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22610116"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22610116"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Bregje W M van Bon, Christian Gilissen, Dorothy K Grange, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cantú syndrome is caused by mutations in ABCC9."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2012.04.014"}], "href": "https://doi.org/10.1016/j.ajhg.2012.04.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22608503"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22608503"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mark D Levin, Gautam K Singh, Hai Xia Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1606465113"}], "href": "https://doi.org/10.1073/pnas.1606465113"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27247394"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27247394"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "K V Allebrandt, N Amin, B Müller-Myhsok, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2011.142"}], "href": "https://doi.org/10.1038/mp.2011.142"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22105623"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22105623"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Peter T Nelson, Steven Estus, Erin L Abner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Neuropathol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00401-014-1282-2"}], "href": "https://doi.org/10.1007/s00401-014-1282-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24770881"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24770881"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Peter T Nelson, Wang-Xia Wang, Bernard R Wilfred, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel human ABCC9/SUR2 brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurochem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jnc.13202"}], "href": "https://doi.org/10.1111/jnc.13202"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26115089"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26115089"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Peter T Nelson, Gregory A Jicha, Wang-Xia Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ageing Res Rev (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.arr.2015.07.007"}], "href": "https://doi.org/10.1016/j.arr.2015.07.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26226329"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26226329"}]}]}]}
Synonyms	ATFB12, ABC37, CANTU, CMD1O
Proteins	ABCC9_HUMAN
NCBI Gene ID	10060
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ABCC9 has 5,152 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 120 datasets.

Click the + buttons to view associations for ABCC9 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ABCC9 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ABCC9 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 ABCC9 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 ABCC9 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 ABCC9 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 ABCC9 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 ABCC9 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 ABCC9 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 ABCC9 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 ABCC9 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 ABCC9 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ABCC9 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 ABCC9 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ABCC9 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 ABCC9 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ABCC9 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ABCC9 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ABCC9 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ABCC9 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ABCC9 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ABCC9 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 ABCC9 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ABCC9 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ABCC9 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ABCC9 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ABCC9 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ABCC9 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 ABCC9 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 ABCC9 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ABCC9 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ABCC9 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ABCC9 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 ABCC9 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 ABCC9 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 ABCC9 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ABCC9 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for ABCC9 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ABCC9 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 ABCC9 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ABCC9 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 ABCC9 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.