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Aliases for ABCC8 Gene

Aliases for ABCC8 Gene

  • ATP Binding Cassette Subfamily C Member 8 2 3 5
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8 2 3
  • Sulfonylurea Receptor (Hyperinsulinemia) 2 3
  • Sulfonylurea Receptor 1 3 4
  • HRINS 3 4
  • SUR1 3 4
  • SUR 3 4
  • ATP-Binding Cassette Transporter Sub-Family C Member 8 3
  • SUR1delta2 3
  • ABC36 3
  • TNDM2 3
  • MRP8 3
  • HHF1 3
  • PHHI 3
  • HI 3

External Ids for ABCC8 Gene

Previous HGNC Symbols for ABCC8 Gene

  • SUR
  • HRINS

Previous GeneCards Identifiers for ABCC8 Gene

  • GC11M018553
  • GC11M018356
  • GC11M017453
  • GC11M017378
  • GC11M017373
  • GC11M017098
  • GC11M017414

Summaries for ABCC8 Gene

Entrez Gene Summary for ABCC8 Gene

  • 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 and deficiencies in this 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, Dec 2013]

GeneCards Summary for ABCC8 Gene

ABCC8 (ATP Binding Cassette Subfamily C Member 8) is a Protein Coding gene. Diseases associated with ABCC8 include hyperinsulinemic hypoglycemia, familial, 1 and diabetes mellitus, transient neonatal 2. Among its related pathways are Metabolism and Infectious disease. GO annotations related to this gene include ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCC3.

UniProtKB/Swiss-Prot for ABCC8 Gene

  • Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.

Gene Wiki entry for ABCC8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCC8 Gene

Genomics for ABCC8 Gene

Regulatory Elements for ABCC8 Gene

Genomic Location for ABCC8 Gene

Chromosome:
11
Start:
17,392,885 bp from pter
End:
17,476,845 bp from pter
Size:
83,961 bases
Orientation:
Minus strand

Genomic View for ABCC8 Gene

Genes around ABCC8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCC8 Gene

Proteins for ABCC8 Gene

  • Protein details for ABCC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q09428-ABCC8_HUMAN
    Recommended name:
    ATP-binding cassette sub-family C member 8
    Protein Accession:
    Q09428
    Secondary Accessions:
    • A6NMX8
    • E3UYX6
    • O75948
    • Q16583

    Protein attributes for ABCC8 Gene

    Size:
    1581 amino acids
    Molecular mass:
    176992 Da
    Quaternary structure:
    • Interacts with KCNJ11.

    Alternative splice isoforms for ABCC8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCC8 Gene

Proteomics data for ABCC8 Gene at MOPED

Post-translational modifications for ABCC8 Gene

  • Glycosylation at Asn 10 and Asn 1049
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ABCC8 Gene

Domains & Families for ABCC8 Gene

Gene Families for ABCC8 Gene

Suggested Antigen Peptide Sequences for ABCC8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q09428

UniProtKB/Swiss-Prot:

ABCC8_HUMAN :
  • Contains 2 ABC transmembrane type-1 domains.
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Domain:
  • Contains 2 ABC transmembrane type-1 domains.
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
genes like me logo Genes that share domains with ABCC8: view

Function for ABCC8 Gene

Molecular function for ABCC8 Gene

GENATLAS Biochemistry:
ATP-binding cassette superfamily,subfamily C (CFTR/MRP),member 8,expressed in beta cell of the pancreatic islet (IKATP),maybe a minor contributor of NIDDM and obesity in French Caucasians,and hyperinsulinemia in non diabetic Mexican Americans
UniProtKB/Swiss-Prot Function:
Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.

Gene Ontology (GO) - Molecular Function for ABCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015272 ATP-activated inward rectifier potassium channel activity TAS --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
genes like me logo Genes that share ontologies with ABCC8: view
genes like me logo Genes that share phenotypes with ABCC8: view

Human Phenotype Ontology for ABCC8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCC8 Gene

MGI Knock Outs for ABCC8:

Animal Model Products

CRISPR Products

miRNA for ABCC8 Gene

miRTarBase miRNAs that target ABCC8

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ABCC8 Gene

Localization for ABCC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCC8 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCC8 Gene COMPARTMENTS Subcellular localization image for ABCC8 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 3
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ABCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0030672 synaptic vesicle membrane IEA --
genes like me logo Genes that share ontologies with ABCC8: view

Pathways & Interactions for ABCC8 Gene

genes like me logo Genes that share pathways with ABCC8: view

Gene Ontology (GO) - Biological Process for ABCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006810 transport IEA --
GO:0006813 potassium ion transport TAS 7502040
GO:0007165 signal transduction IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ABCC8: view

No data available for SIGNOR curated interactions for ABCC8 Gene

Drugs & Compounds for ABCC8 Gene

(40) Drugs for ABCC8 Gene - From: DGIdb, Novoseek, DrugBank, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Repaglinide Approved, Investigational Pharma blocker, Target, inhibitor Kir6 (KATP) channel blocker 50
Glimepiride Approved Pharma blocker, Target, inducer Sulfonylurea compound 221
Glyburide Approved Pharma Channel blocker, Target, modulator 107
Mitiglinide Approved, Investigational Pharma blocker, Target, inhibitor 15
Nateglinide Approved, Investigational Pharma blocker, Target, inhibitor Insulin secretagog agent 23

(26) Additional Compounds for ABCC8 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxychlorpropamide
36892-36-1
7-Hydroxygliclazide
genes like me logo Genes that share compounds with ABCC8: view

Transcripts for ABCC8 Gene

Unigene Clusters for ABCC8 Gene

ATP-binding cassette, sub-family C (CFTR/MRP), member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c · 12d · 12e ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^
SP1: - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b · 28c ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b · 32c ^ 33 ^
SP1: - - - - -
SP2: - - - - -
SP3: - -
SP4: - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:

ExUns: 34a · 34b · 34c ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39a · 39b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -
SP15: -

Relevant External Links for ABCC8 Gene

GeneLoc Exon Structure for
ABCC8
ECgene alternative splicing isoforms for
ABCC8

Expression for ABCC8 Gene

mRNA expression in normal human tissues for ABCC8 Gene

mRNA differential expression in normal tissues according to GTEx for ABCC8 Gene

This gene is overexpressed in Brain - Cerebellum (x8.6), Brain - Cerebellar Hemisphere (x7.6), and Pituitary (x7.1).

Protein differential expression in normal tissues from HIPED for ABCC8 Gene

This gene is overexpressed in Prostate (32.8), Pancreas (23.9), and Peripheral blood mononuclear cells (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ABCC8 Gene



SOURCE GeneReport for Unigene cluster for ABCC8 Gene Hs.54470

genes like me logo Genes that share expression patterns with ABCC8: view

Protein tissue co-expression partners for ABCC8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ABCC8 Gene

Orthologs for ABCC8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCC8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABCC8 35
  • 92.18 (n)
  • 96.27 (a)
ABCC8 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCC8 35
  • 91.84 (n)
  • 96.05 (a)
ABCC8 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcc8 35
  • 89.58 (n)
  • 95.45 (a)
Abcc8 16
Abcc8 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCC8 35
  • 99.01 (n)
  • 99.29 (a)
ABCC8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcc8 35
  • 89.35 (n)
  • 95.64 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCC8 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCC8 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCC8 35
  • 73.73 (n)
  • 83.06 (a)
ABCC8 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCC8 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8858 35
zebrafish
(Danio rerio)
Actinopterygii abcc8 35
  • 71.46 (n)
  • 77.11 (a)
abcc8 36
  • 75 (a)
OneToMany
ABCC8 (2 of 3) 36
  • 65 (a)
OneToMany
CABZ01071494.1 36
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sur 37
  • 24 (a)
Sur 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18C4.2 37
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
Species with no ortholog for ABCC8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABCC8 Gene

ENSEMBL:
Gene Tree for ABCC8 (if available)
TreeFam:
Gene Tree for ABCC8 (if available)

Paralogs for ABCC8 Gene

Paralogs for ABCC8 Gene

genes like me logo Genes that share paralogs with ABCC8: view

Variants for ABCC8 Gene

Sequence variations from dbSNP and Humsavar for ABCC8 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_015006 -
VAR_015007 Familial hyperinsulinemic hypoglycemia 1 (HHF1)
VAR_015008 Familial hyperinsulinemic hypoglycemia 1 (HHF1)
VAR_015009 Familial hyperinsulinemic hypoglycemia 1 (HHF1)
VAR_015010 Familial hyperinsulinemic hypoglycemia 1 (HHF1)

Structural Variations from Database of Genomic Variants (DGV) for ABCC8 Gene

Variant ID Type Subtype PubMed ID
nsv469895 CNV Loss 16826518
nsv467712 CNV Loss 19166990
dgv59n21 CNV Loss 19592680
nsv897018 CNV Loss 21882294
nsv467713 CNV Loss 19166990
dgv1035n71 CNV Gain 21882294
dgv1036n71 CNV Loss 21882294

Variation tolerance for ABCC8 Gene

Residual Variation Intolerance Score: 1.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.23; 62.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCC8 Gene

HapMap Linkage Disequilibrium report
ABCC8
Human Gene Mutation Database (HGMD)
ABCC8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCC8 Gene

Disorders for ABCC8 Gene

MalaCards: The human disease database

(43) MalaCards diseases for ABCC8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperinsulinemic hypoglycemia, familial, 1
  • persistent hyperinsulinemic hypoglycemia of infancy
diabetes mellitus, transient neonatal 2
  • tndm2
hypoglycemia of infancy, leucine-sensitive
  • leucine-sensitive hypoglycemia of infancy
diabetes mellitus, permanent neonatal
  • diabetes, permanent neonatal
hyperinsulinemic hypoglycemia, familial, 2
  • familial hyperinsulinism
- elite association - COSMIC cancer census association via MalaCards
Search ABCC8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABCC8_HUMAN
  • Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269 PubMed:16613899, ECO:0000269 PubMed:16885549, ECO:0000269 PubMed:17213273, ECO:0000269 PubMed:17668386}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269 PubMed:10202168, ECO:0000269 PubMed:10334322, ECO:0000269 PubMed:12364426, ECO:0000269 PubMed:12941782, ECO:0000269 PubMed:15562009, ECO:0000269 PubMed:15579781, ECO:0000269 PubMed:15807877, ECO:0000269 PubMed:16357843, ECO:0000269 PubMed:16429405, ECO:0000269 PubMed:24814349, ECO:0000269 PubMed:25720052, ECO:0000269 PubMed:8751851, ECO:0000269 PubMed:8923011, ECO:0000269 PubMed:9618169, ECO:0000269 PubMed:9769320}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leucine-induced hypoglycemia (LIH) [MIM:240800]: Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. {ECO:0000269 PubMed:15356046}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence. {ECO:0000269 PubMed:16885549}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCC8

Genetic Association Database (GAD)
ABCC8
Human Genome Epidemiology (HuGE) Navigator
ABCC8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCC8
genes like me logo Genes that share disorders with ABCC8: view

No data available for Genatlas for ABCC8 Gene

Publications for ABCC8 Gene

  1. Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. (PMID: 8635661) Inoue H. … Aguilar-Bryan L. (Diabetes 1996) 3 4 23 48 67
  2. Synthesis and evaluation of (S)-2-(2-[18F]fluoroethoxy)-4-([3-methyl-1-(2-piperidin-1-yl-phenyl)-butyl-carbamoyl]-methyl)-benzoic acid ([18F]repaglinide): a promising radioligand for quantification of pancreatic beta-cell mass with positron emission tomography (PET). (PMID: 15219283) WAongler B. … Schirrmacher R. (Nucl. Med. Biol. 2004) 23 25 26
  3. Nateglinide, a D-phenylalanine derivative lacking either a sulfonylurea or benzamido moiety, specifically inhibits pancreatic beta-cell-type K(ATP) channels. (PMID: 12604678) Chachin M. … Kurachi Y. (J. Pharmacol. Exp. Ther. 2003) 23 25 26
  4. Glibenclamide binding to sulphonylurea receptor subtypes: dependence on adenine nucleotides. (PMID: 12145099) Hambrock A. … Quast U. (Br. J. Pharmacol. 2002) 23 25 26
  5. SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide. Defining intersubunit gating interactions. (PMID: 12213829) Babenko A.P. … Bryan J. (J. Biol. Chem. 2002) 3 25 26

Products for ABCC8 Gene

Sources for ABCC8 Gene

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