ABCC8 Gene

HGNC Family	ATP binding cassette transporters (ABC)
Name	ATP-binding cassette, sub-family C (CFTR/MRP), member 8
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 functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1), a critical regulatory subunit of the pancreatic beta‐cell ATP‐sensitive potassium (KATP) channel that, together with the pore‐forming Kir6.2 (encoded by KCNJ11), couples the beta‐cell’s metabolic state to its electrical activity and insulin secretion."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " SUR1 helps regulate channel gating by mediating the inhibitory actions of ATP and the stimulatory effects of MgADP, thereby ensuring that insulin release is properly matched to changes in glucose metabolism.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its essential role in normal beta‐cell function, mutations in ABCC8 have been shown to produce a spectrum of clinically significant phenotypes. Activating (gain‐of‐function) mutations reduce the sensitivity of the KATP channel to ATP inhibition, increase channel open probability, and impair depolarization‐induced insulin secretion—mechanisms that underlie certain forms of neonatal diabetes (often with neurological features)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}, {"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Conversely, loss‐of‐function mutations in ABCC8 are a common genetic cause of congenital hyperinsulinism, resulting in unrestrained insulin release during infancy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}, {"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its classical role in mediating KATP channel function, emerging evidence indicates that SUR1 also contributes to other aspects of insulin secretion. For example, studies in SUR1‐deficient beta cells have revealed that SUR1 is integral to cAMP‐dependent exocytosis—possibly by regulating granule priming steps such as Cl<sup>–</sup> influx—highlighting a broader role in the stimulus–secretion cascade."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, common genetic variants in ABCC8 can influence drug responsiveness. The Ser1369Ala variant, for instance, has been associated with enhanced antidiabetic efficacy of sulfonylurea medications in type 2 diabetes, underscoring the gene’s importance not only in disease pathogenesis but also as a determinant of therapeutic outcome."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, ABCC8 (through its product, SUR1) is essential for translating the beta‐cell’s metabolic signals into appropriate electrical responses and insulin release. Variations in this gene—from rare mutations causing neonatal diabetes or congenital hyperinsulinism to common polymorphisms affecting drug response—demonstrate its pivotal role in maintaining glucose homeostasis and its therapeutic relevance in diabetes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Anna L Gloyn, Michael N Weedon, Katharine R Owen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/diabetes.52.2.568"}], "href": "https://doi.org/10.2337/diabetes.52.2.568"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12540637"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12540637"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Andrey P Babenko, Michel Polak, Hélène Cavé, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Activating mutations in the ABCC8 gene in neonatal diabetes mellitus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "N Engl J Med (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1056/NEJMoa055068"}], "href": "https://doi.org/10.1056/NEJMoa055068"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16885549"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16885549"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jose C Florez, Noël Burtt, Paul I W de Bakker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/diabetes.53.5.1360"}], "href": "https://doi.org/10.2337/diabetes.53.5.1360"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15111507"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15111507"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sarah E Flanagan, Séverine Clauin, Christine Bellanné-Chantelot, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20838"}], "href": "https://doi.org/10.1002/humu.20838"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18767144"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18767144"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Peter Proks, Amanda L Arnold, Jan Bruining, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddl101"}], "href": "https://doi.org/10.1093/hmg/ddl101"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16613899"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16613899"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ritika R Kapoor, Sarah E Flanagan, Ved Bhushan Arya, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Endocrinol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1530/EJE-12-0673"}], "href": "https://doi.org/10.1530/EJE-12-0673"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23345197"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23345197"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Lena Eliasson, Xiaosong Ma, Erik Renström, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SUR1 regulates PKA-independent cAMP-induced granule priming in mouse pancreatic B-cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Gen Physiol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1085/jgp.20028707"}], "href": "https://doi.org/10.1085/jgp.20028707"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12601083"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12601083"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yan Feng, Guangyun Mao, Xiaowei Ren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes Care (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/dc07-2248"}], "href": "https://doi.org/10.2337/dc07-2248"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18599530"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18599530"}]}]}]}
Synonyms	SUR1, ABC36, SUR, SUR1DELTA2, HI, HHF1, HRINS, TNDM2
Proteins	ABCC8_HUMAN
NCBI Gene ID	6833
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ABCC8 has 6,910 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 132 datasets.

Click the + buttons to view associations for ABCC8 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ABCC8 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 ABCC8 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 ABCC8 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 ABCC8 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ABCC8 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ABCC8 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 ABCC8 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 ABCC8 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 ABCC8 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 ABCC8 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 ABCC8 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ABCC8 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ABCC8 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 ABCC8 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ABCC8 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 ABCC8 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ABCC8 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 ABCC8 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 ABCC8 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ABCC8 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of ABCC8 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ABCC8 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ABCC8 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ABCC8 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ABCC8 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 ABCC8 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 ABCC8 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 ABCC8 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 ABCC8 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ABCC8 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ABCC8 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ABCC8 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ABCC8 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ABCC8 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for ABCC8 protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ABCC8 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ABCC8 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ABCC8 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 ABCC8 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 ABCC8 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 ABCC8 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.