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Gene

ABCC8

ATP binding cassette subfamily C member 8

Summary

Cytogenetic location
11p15.1
Coordinates
Chromosome 11: 17,392,885–17,476,845 (GRCh38)
Exons
39 exons across 84 kb
Protein
1,581 amino acids
Inheritance
Autosomal dominant
Also known as
HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2
Previous symbols
SUR, HRINS
MANE Select transcript
ENST00000389817.8NM_000352.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Diabetes Mellitus

    • A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems

  • Hyperinsulinism

    • Hyperinsulinemic Hypoglycemia, Familial, 1

      Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
    • Leucine-induced hypoglycemiaAutosomal dominant

      Low blood sugar triggered by protein (leucine) intake, caused by inappropriate insulin release.

      • 3 GenCC submitters rate it definitive or strong

    • Abnormally high levels of insulin in the blood.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong

  • Maturity-Onset Diabetes Of The Young

    • Autosomal dominant

      MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      GCK-MODY: no treatment needed; HNF1A/HNF4A-MODY: low-dose sulfonylureas; HNF1B-MODY: insulin + renal monitoring; T2D polygenic: lifestyle modification, metformin, GLP-1 agonists, SGLT2 inhibitors based on comorbidity profile

  • Neonatal Diabetes Mellitus

    • Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ABCC8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where ABCC8 sits. ABCC8 and 11 genes near it on chromosome 11, from 16,934,865 to 17,934,864.Chromosome 1111p15.1p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2517 Mb17.2 Mb17.4 Mb17.6 Mb17.8 MbPLEKHA7: 16,777,297–17,014,589, reverse strandPLEKHA7RPS13: 17,066,750–17,077,729, reverse strandRPS13PIK3C2A: 17,077,730–17,207,986, reverse strandPIK3C2ANUCB2: 17,208,072–17,349,980, forward strandNUCB2NCR3LG1: 17,351,677–17,377,341, forward strandNCR3LG1KCNJ11: 17,364,082–17,389,364, reverse strandKCNJ11ABCC8: 17,392,885–17,476,845, reverse strandABCC8USH1C: 17,493,895–17,544,435, reverse strandUSH1COTOG: 17,547,259–17,647,150, forward strandOTOGMYOD1: 17,719,565–17,722,136, forward strandMYOD1KCNC1: 17,734,724–17,856,811, forward strandKCNC1SERGEF: 17,788,043–18,013,199, reverse strandSERGEFDiagram of ABCC8: 39 exons on the reverse strand of chromosome 11Exon 39: 5 known disease-causing sitesExon 38: 6 known disease-causing sitesExon 37: 13 known disease-causing sitesExon 36: 10 known disease-causing sitesExon 35: 14 known disease-causing sitesExon 34: 16 known disease-causing sitesExon 33: 9 known disease-causing sitesExon 32: 7 known disease-causing sitesExon 31: 9 known disease-causing sitesExon 30: 5 known disease-causing sitesExon 29: 10 known disease-causing sitesExon 28: 14 known disease-causing sitesExon 27: 6 known disease-causing sitesExon 26: 6 known disease-causing sitesExon 25: 15 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 23: 8 known disease-causing sitesExon 22: 11 known disease-causing sitesExon 21: 10 known disease-causing sitesExon 20: 5 known disease-causing sitesExon 19: 5 known disease-causing sitesExon 18: 2 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 16: 7 known disease-causing sitesExon 15: 7 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 13: 12 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 13 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 5: 22 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 1: 17 known disease-causing sitesExon 39: 17,392,885–17,393,128, 244 basesExon 38: 17,393,697–17,393,759, 63 basesExon 37: 17,394,266–17,394,399, 134 basesExon 36: 17,395,172–17,395,275, 104 basesExon 35: 17,395,610–17,395,718, 109 basesExon 34: 17,395,852–17,395,930, 79 basesExon 33: 17,396,916–17,397,046, 131 basesExon 32: 17,397,193–17,397,313, 121 basesExon 31: 17,397,684–17,397,797, 114 basesExon 30: 17,398,339–17,398,441, 103 basesExon 29: 17,402,661–17,402,753, 93 basesExon 28: 17,404,512–17,404,669, 158 basesExon 27: 17,405,494–17,405,563, 70 basesExon 26: 17,406,622–17,406,788, 167 basesExon 25: 17,406,888–17,407,129, 242 basesExon 24: 17,407,354–17,407,453, 100 basesExon 23: 17,408,392–17,408,517, 126 basesExon 22: 17,410,516–17,410,653, 138 basesExon 21: 17,412,666–17,412,746, 81 basesExon 20: 17,413,394–17,413,478, 85 basesExon 19: 17,414,512–17,414,610, 99 basesExon 18: 17,415,304–17,415,339, 36 basesExon 17: 17,416,930–17,416,962, 33 basesExon 16: 17,427,049–17,427,154, 106 basesExon 15: 17,427,867–17,427,942, 76 basesExon 14: 17,428,289–17,428,405, 117 basesExon 13: 17,428,565–17,428,670, 106 basesExon 12: 17,430,814–17,430,959, 146 basesExon 11: 17,432,204–17,432,244, 41 basesExon 10: 17,442,720–17,442,882, 163 basesExon 9: 17,443,178–17,443,312, 135 basesExon 8: 17,448,516–17,448,671, 156 basesExon 7: 17,453,119–17,453,283, 165 basesExon 6: 17,460,488–17,460,676, 189 basesExon 5: 17,461,583–17,461,825, 243 basesExon 4: 17,463,438–17,463,604, 167 basesExon 3: 17,470,101–17,470,222, 122 basesExon 2: 17,474,886–17,475,027, 142 basesExon 1: 17,476,629–17,476,845, 217 bases39353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.9 kb of the gene's 84 kb; 4,746 of those bases code for the protein.

How a genome test reads ABCC8

412

positions in ABCC8 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 84 kb of ABCC8, introns included, not only the 4.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ABCC8 gene: ATP binding cassette subfamily C member 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/abcc8

Vancouver

Dante Labs. ABCC8 gene: ATP binding cassette subfamily C member 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/abcc8

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