U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ABCC8 ATP binding cassette subfamily C member 8 [ Homo sapiens (human) ]

Gene ID: 6833, updated on 20-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
ABCC8provided by HGNC
Official Full Name
ATP binding cassette subfamily C member 8provided by HGNC
Primary source
HGNC:HGNC:59
See related
Ensembl:ENSG00000006071 MIM:600509; AllianceGenome:HGNC:59
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; PNDM3; TNDM2; SUR1delta2
Summary
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]
Expression
Biased expression in brain (RPKM 4.8), adrenal (RPKM 3.5) and 9 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
11p15.1
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (17392498..17476845, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (17490094..17574439, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17414045..17498392, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17373285-17373886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17373887-17374488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4488 Neighboring gene MPRA-validated peak1220 silencer Neighboring gene natural killer cell cytotoxicity receptor 3 ligand 1 Neighboring gene NANOG hESC enhancer GRCh37_chr11:17397887-17398425 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:17399732-17400931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17408081-17408734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17408735-17409388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3186 Neighboring gene Sharpr-MPRA regulatory region 5134 Neighboring gene potassium inwardly rectifying channel subfamily J member 11 Neighboring gene VISTA enhancer hs1977 Neighboring gene succinate dehydrogenase complex subunit C pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17497048-17497604 Neighboring gene uncharacterized LOC124902641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17514781-17515280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17516552-17517052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17517053-17517553 Neighboring gene USH1 protein network component harmonin Neighboring gene ReSE screen-validated silencer GRCh37_chr11:17550891-17551094 Neighboring gene otogelin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17623679-17624178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17626113-17626614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17666796-17667296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17667297-17667797

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance. Silvestri F, et al. Acta Diabetol, 2023 Jul. PMID 36944758
  2. Sulfonylurea receptor 1-expressing cancer cells induce cancer-associated fibroblasts to promote non-small cell lung cancer progression. Chen H, et al. Cancer Lett, 2022 Jun 28. PMID 35240233
  3. Serum sulfonylurea receptor-1 as a biomarker of clinical severity and prognosis in patients with traumatic brain injury. Ying X, et al. Clin Chim Acta, 2022 Mar 1. PMID 35092725
  4. Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young. Tang C, et al. Front Endocrinol (Lausanne), 2021. PMID 35002955, Free PMC Article
  5. Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation. Takasawa K, et al. Clin Endocrinol (Oxf), 2021 Jun. PMID 33595839

See all (285) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
    Title: An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
  2. Dynamic duo: Kir6 and SUR in KATP channel structure and function.
    Title: Dynamic duo: Kir6 and SUR in K(ATP) channel structure and function.
  3. Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
    Title: Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
  4. Protein expression and localization of ABC transporters in pancreatic adenocarcinoma: Prognostic role of ABCC8.
    Title: Protein expression and localization of ABC transporters in pancreatic adenocarcinoma: Prognostic role of ABCC8.
  5. Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
    Title: Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
  6. Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
    Title: Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
  7. Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
    Title: Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
  8. The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.
    Title: The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.
  9. Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population.
    Title: Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population.
  10. Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria.
    Title: Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria.
Submit: New GeneRIF Correction See all GeneRIFs (219)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables ADP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
contributes_to ATP-activated inward rectifier potassium channel activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables ATP-activated inward rectifier potassium channel activity TAS
Traceable Author Statement
more info
  
enables ATPase-coupled monoatomic cation transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATPase-coupled monoatomic cation transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables potassium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables sulfonylurea receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to organic substance IEA
Inferred from Electronic Annotation
more info
  
involved_in female pregnancy IEA
Inferred from Electronic Annotation
more info
  
involved_in glutamate secretion, neurotransmission IEA
Inferred from Electronic Annotation
more info
  
involved_in inorganic cation transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular glucose homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in memory IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of blood-brain barrier permeability IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of glial cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of low-density lipoprotein particle clearance IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuroblast migration IEA
Inferred from Electronic Annotation
more info
  
involved_in neuromuscular process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of potassium ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of tight junction disassembly IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of uterine smooth muscle relaxation IEA
Inferred from Electronic Annotation
more info
  
involved_in potassium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in potassium ion transmembrane transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in potassium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in response to insulin IEA
Inferred from Electronic Annotation
more info
  
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
  
involved_in response to pH IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in response to zinc ion IEA
Inferred from Electronic Annotation
more info
  
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in visual learning IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of inward rectifying potassium channel IDA
Inferred from Direct Assay
more info
 PubMed 
part_of inward rectifying potassium channel IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of potassium ion-transporting ATPase complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
ATP-binding cassette sub-family C member 8
Names
ATP-binding cassette transporter sub-family C member 8
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
sulfonylurea receptor (hyperinsulinemia)
sulfonylurea receptor 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008867.1 RefSeqGene

    Range
    5058..89018
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_790

mRNA and Protein(s)

  1. NM_000352.6 → NP_000343.2  ATP-binding cassette sub-family C member 8 isoform 2

    See identical proteins and their annotated locations for NP_000343.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 3. The encoded isoform (2) is shorter than isoform 3. Isoforms 2 and 4 are the same length but differ in sequence.
    Source sequence(s)
    AC124798, AF087138, BM313666, BM352492, R84665
    Consensus CDS
    CCDS31437.1
    UniProtKB/Swiss-Prot
    A6NMX8, E3UYX6, O75948, Q09428, Q16583
    UniProtKB/TrEMBL
    A0A2R8Y4Z4
    Related
    ENSP00000374467.4, ENST00000389817.8
    Conserved Domains (1) summary
    TIGR00957
    Location:224 → 1578
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)

  2. NM_001287174.3 → NP_001274103.1  ATP-binding cassette sub-family C member 8 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses two alternate in-frame splice sites in the 5' coding region compared to variant 3. The encoded isoform (1) is shorter than isoform 3
    Source sequence(s)
    AC124798, AF087138, BM313666, BM352492, BU950000, R84665
    Consensus CDS
    CCDS73264.1
    UniProtKB/TrEMBL
    A0A2R8Y4Z4
    Related
    ENSP00000303960.4, ENST00000302539.9
    Conserved Domains (3) summary
    TIGR01271
    Location:223 → 1582
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:1017 → 1295
    ABC_membrane; ABC transporter transmembrane region
    cl21455
    Location:1343 → 1582
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. NM_001351295.2 → NP_001338224.1  ATP-binding cassette sub-family C member 8 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC124798
    Consensus CDS
    CCDS86183.1
    UniProtKB/TrEMBL
    A0A2R8Y4V0, A0A2R8Y4Z4
    Related
    ENSP00000494321.1, ENST00000644772.1
    Conserved Domains (1) summary
    cl26602
    Location:224 → 1600
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

  4. NM_001351296.2 → NP_001338225.1  ATP-binding cassette sub-family C member 8 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes isoform (4). Isoforms 2 and 4 are the same length but differ in sequence.
    Source sequence(s)
    AC124798
    Consensus CDS
    CCDS86185.1
    UniProtKB/TrEMBL
    A0A2R8Y4Z4, A0A2R8Y5D8
    Related
    ENSP00000494450.1, ENST00000643260.1
    Conserved Domains (1) summary
    cl26602
    Location:224 → 1578
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

  5. NM_001351297.2 → NP_001338226.1  ATP-binding cassette sub-family C member 8 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC124798
    Consensus CDS
    CCDS86184.1
    UniProtKB/TrEMBL
    A0A2R8Y4Z4, A0A2R8YDG0
    Related
    ENSP00000493749.1, ENST00000642271.1
    Conserved Domains (1) summary
    cl26602
    Location:224 → 1577
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

RNA

  1. NR_147094.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC124798
    Related
    ENST00000645884.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    17392498..17476845 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    17490094..17574439 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q09428.6 GenPept UniProtKB/Swiss-Prot:Q09428

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous