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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ABCC8
ATP binding cassette subfamily C member 8
Chromosome 11 · 11p15.1
NCBI Gene: 6833Ensembl: ENSG00000006071.16HGNC: HGNC:59UniProt: A0A2R8Y4V0
296PubMed Papers
25Diseases
12Drugs
477Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ATPase-coupled monoatomic cation transmembrane transporter activityinward rectifying potassium channeltransmembrane transporter bindingpotassium channel activitytype 2 diabetes mellitushyperinsulinemic hypoglycemia, familial, 1diabetes mellitus, permanent neonatal 3diabetes mellitus, transient neonatal, 2
✦AI Summary

ABCC8 encodes the sulfonylurea receptor 1 (SUR1) subunit of ATP-sensitive potassium (KATP) channels in pancreatic β-cells, playing a crucial role in glucose-stimulated insulin secretion 1. The protein functions as a regulatory subunit that partners with KCNJ11 to form functional KATP channels, where KCNJ11 forms the channel pore while ABCC8 enables activation and regulation 1. These channels are key components of the insulin secretion pathway, responding to cellular ATP levels to control insulin release 2. Pathogenic variants in ABCC8 cause diverse metabolic disorders with opposing phenotypes: inactivating mutations lead to oversecretion of insulin resulting in congenital hyperinsulinism, while activating mutations cause reduced insulin secretion and diabetes 1. The gene is associated with multiple diabetes subtypes including neonatal diabetes, MODY type 12, and hyperinsulinemic hypoglycemia 3. ABCC8 mutations represent the most common genetic cause of both neonatal diabetes and hyperinsulinism 1. Clinical management often involves sulfonylureas, which target the defective gene product, though treatment efficacy varies substantially depending on the specific mutation 3. The complexity of genotype-phenotype correlations in ABCC8-related disorders necessitates genetic testing for accurate diagnosis and appropriate therapeutic intervention 4.

Sources cited
1
ABCC8 and KCNJ11 are the most common genetic causes of neonatal diabetes and hyperinsulinism, encoding KATP channel subunits
PMID: 32027066
2
ABCC8 encodes sulfonylurea receptor that regulates insulin secretion through KATP channels
PMID: 24768178
3
ABCC8-MODY shows variable clinical manifestations and sulfonylureas are preferred treatment
PMID: 38980630
4
ABCC8 variants cause diverse phenotypes and genetic testing is essential for diagnosis
PMID: 34631896
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ25
type 2 diabetes mellitusOpen Targets
0.86Strong
hyperinsulinemic hypoglycemia, familial, 1Open Targets
0.86Strong
diabetes mellitus, permanent neonatal 3Open Targets
0.79Strong
diabetes mellitus, transient neonatal, 2Open Targets
0.79Strong
diabetes mellitusOpen Targets
0.79Strong
leucine-induced hypoglycemiaOpen Targets
0.77Strong
permanent neonatal diabetes mellitusOpen Targets
0.72Strong
congenital isolated hyperinsulinismOpen Targets
0.69Moderate
HypoglycemiaOpen Targets
0.67Moderate
transient neonatal diabetes mellitusOpen Targets
0.65Moderate
MODYOpen Targets
0.65Moderate
maturity-onset diabetes of the youngOpen Targets
0.57Moderate
familial hyperinsulinismOpen Targets
0.56Moderate
neonatal diabetes mellitusOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.53Moderate
monogenic diabetesOpen Targets
0.48Moderate
autosomal dominant hyperinsulinism due to SUR1 deficiencyOpen Targets
0.45Moderate
diabetic retinopathyOpen Targets
0.45Moderate
pulmonary arterial hypertensionOpen Targets
0.44Moderate
diabetic eye diseaseOpen Targets
0.40Moderate
Diabetes mellitus, permanent neonatal, 3UniProt
Hyperinsulinemic hypoglycemia, familial, 1UniProt
Leucine-induced hypoglycemiaUniProt
Maturity-onset diabetes of the young 12UniProt
Transient neonatal diabetes mellitus 2UniProt
Pathogenic Variants477
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)Pathogenic
not provided|Type 2 diabetes mellitus|Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3|Maturity-onset diabetes of the young|Maturity-onset diabetes of the young, type 12
★★☆☆2026→ Residue 1515
NM_000352.6(ABCC8):c.2041-21G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Type 2 diabetes mellitus|Inborn genetic diseases|Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1|Leucine-induced hypoglycemia;Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism
★★☆☆2026
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Hereditary hyperinsulinism|Maturity-onset diabetes of the young|ABCC8-related disorder|Type 2 diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus
★★☆☆2026→ Residue 1387
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)Pathogenic
not provided|Hereditary hyperinsulinism|Leucine-induced hypoglycemia;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 3|Type 2 diabetes mellitus|See cases|Hyperinsulinemic hypoglycemia, familial, 1
★★☆☆2026→ Residue 444
NM_000352.6(ABCC8):c.3989-9G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Inborn genetic diseases|Hereditary hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3|Type 2 diabetes mellitus|ABCC8-related disorder|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3
★★☆☆2026
NM_000352.6(ABCC8):c.3988+2T>CPathogenic
not provided|Hyperinsulinemic hypoglycemia, familial, 1|Type 2 diabetes mellitus|Hereditary hyperinsulinism|Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus
★★☆☆2026
NM_000352.6(ABCC8):c.3868-1G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Maturity-onset diabetes of the young|Neonatal diabetes mellitus|Type 2 diabetes mellitus|Familial hyperinsulinism|Leucine-induced hypoglycemia;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3|Hereditary hyperinsulinism
★★☆☆2026
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hereditary hyperinsulinism|Type 2 diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3
★★☆☆2026→ Residue 1420
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hereditary hyperinsulinism|Type 2 diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3
★★☆☆2026→ Residue 1493
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hereditary hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Leucine-induced hypoglycemia;Type 2 diabetes mellitus|Type 2 diabetes mellitus|ABCC8-related disorder
★★☆☆2026→ Residue 1543
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1|Familial hyperinsulinism|Type 2 diabetes mellitus|Hereditary hyperinsulinism
★★☆☆2026→ Residue 526
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3|Type 2 diabetes mellitus|Hereditary hyperinsulinism
★★☆☆2026→ Residue 1418
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided
★★☆☆2026→ Residue 1457
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)Pathogenic
Familial hyperinsulinism|not provided|Hereditary hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1|Type 2 diabetes mellitus|ABCC8-related disorder|Diabetes mellitus, transient neonatal, 2;Diabetes mellitus, permanent neonatal 3;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus
★★☆☆2026→ Residue 898
NM_000352.6(ABCC8):c.4412-13G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Hereditary hyperinsulinism|Type 2 diabetes mellitus|Familial hyperinsulinism
★★☆☆2025
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Hereditary hyperinsulinism|Type 2 diabetes mellitus
★★☆☆2025→ Residue 1436
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Hereditary hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Type 2 diabetes mellitus|Type 2 diabetes mellitus
★★☆☆2025→ Residue 1170
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)Pathogenic
not provided|Familial hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1|Maturity-onset diabetes of the young|Type 2 diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1;Type 2 diabetes mellitus;Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Leucine-induced hypoglycemia|Hereditary hyperinsulinism
★★☆☆2025→ Residue 228
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)Pathogenic
Hyperinsulinemic hypoglycemia, familial, 1|not provided|Familial hyperinsulinism|Type 2 diabetes mellitus|Diabetes mellitus, permanent neonatal 3;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Type 2 diabetes mellitus|Hereditary hyperinsulinism
★★☆☆2025→ Residue 111
NM_000352.6(ABCC8):c.2921-9G>APathogenic
Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|not provided|Type 2 diabetes mellitus|Familial hyperinsulinism|Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Leucine-induced hypoglycemia;Diabetes mellitus, permanent neonatal 3;Type 2 diabetes mellitus
★★☆☆2025
View on ClinVar ↗
Drug Targets12
ACETOHEXAMIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
diabetes mellitus
CHLORPROPAMIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
diabetes mellitus
GLICLAZIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
diabetes mellitus
GLIMEPIRIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
type 2 diabetes mellitus
GLIPIZIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
type 2 diabetes mellitus
GLYBURIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
type 2 diabetes mellitus
MITIGLINIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
diabetes mellitus
MITIGLINIDE CALCIUM DIHYDRATEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
type 2 diabetes mellitus
NATEGLINIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
type 2 diabetes mellitus
REPAGLINIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
type 2 diabetes mellitus
TOLAZAMIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
type 2 diabetes mellitus
TOLBUTAMIDEApproved
Sulfonylurea receptor 1, Kir6.2 blocker
type 2 diabetes mellitus
Related Genes
TRPM4Protein interaction99%PRKACBProtein interaction99%RAPGEF3Protein interaction99%RAPGEF4Protein interaction98%PRKACGProtein interaction97%GCKProtein interaction95%
Tissue Expression6 tissues
Brain
100%
Heart
87%
Lung
64%
Ovary
14%
Liver
5%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ABCC8TRPM4PRKACBRAPGEF3RAPGEF4PRKACGGCK
PROTEIN STRUCTURE
Preparing viewer…
PDB7S5V · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.63–0.83]
RankingsWhere ABCC8 stands among ~20K protein-coding genes
  • #1,186of 20,598
    Most Researched296 · top 10%
  • #132of 1,025
    FDA-Approved Drug Targets12 · top quartile
  • #113of 5,498
    Most Pathogenic Variants477 · top 5%
  • #7,062of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedABCC8
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Update of variants identified in the pancreatic β-cell K
PMID: 32027066
Hum Mutat · 2020
1.00
2
The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.
PMID: 38980630
Curr Diab Rep · 2024
0.90
3
Congenital hyperinsulinism in the Ukraine: a 10-year national study.
PMID: 39741883
Front Endocrinol (Lausanne) · 2024
0.84
4
Congenital hyperinsulinism.
PMID: 25323548
Medicina (Kaunas) · 2014
0.80
5
Monogenic Forms of Diabetes Mellitus.
PMID: 31588541
Exp Suppl · 2019
0.76