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 resistan... See more...

Aliases for ABCC8 Gene

Aliases for ABCC8 Gene

  • ATP Binding Cassette Subfamily C Member 8 2 3 5
  • SUR1 2 3 4
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8 2 3
  • ATP-Binding Cassette Sub-Family C Member 8 3 4
  • Sulfonylurea Receptor (Hyperinsulinemia) 2 3
  • Sulfonylurea Receptor 1 3 4
  • ABC36 2 3
  • HRINS 3 4
  • TNDM2 2 3
  • HHF1 2 3
  • MRP8 2 3
  • PHHI 2 3
  • SUR 3 4
  • HI 2 3
  • ATP-Binding Cassette Transporter Sub-Family C Member 8 3
  • SUR1delta2 3
  • PNDM3 3
  • ABCC8 5

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 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]

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 Type II diabetes mellitus and Antiarrhythmic Pathway, Pharmacodynamics. Gene Ontology (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 ABCC9.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCC8 Gene

Genomics for ABCC8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABCC8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J017477 Promoter 0.7 Ensembl 279.3 +0.7 678 0.4 GABPB1 ZBTB48 ZFX ZBTB8A EZH2 YY1 GLIS2 ZBTB11 ZBTB20 ZBTB26 ABCC8 ENSG00000287898 lnc-KCNJ11-4 KCNJ11
GH11J017478 Promoter 0.8 Ensembl 250.7 +0.2 178 0.2 ZNF513 GABPB1 YY1 ZBTB48 TAF1 ZFX ZBTB8A EZH2 ZBTB11 ZBTB20 ABCC8 ENSG00000287898 KCNJ11
GH11J017476 Promoter 0.7 EPDnew 250.7 +0.0 14 0.1 GABPB1 YY1 TAF1 KLF1 ZBTB8A EZH2 ZBTB26 ABCC8 ENSG00000287898 KCNJ11
GH11J017481 Enhancer 0.3 Ensembl 262.1 -1.2 -1222 0.2 REST MIER2 ABCC8 ENSG00000287898 HSALNG0082955 USH1C
GH11J017438 Enhancer 1.2 Ensembl ENCODE dbSUPER 21.2 +37.5 37479 1.2 FEZF1 FOXA1 ZIC2 THAP11 FOXA2 SMAD4 SAP130 MIER3 RARA TEAD3 ABCC8 KCNJ11 SDHCP4 lnc-KCNJ11-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCC8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCC8

Top Transcription factor binding sites by QIAGEN in the ABCC8 gene promoter:
  • AML1a
  • CREB
  • GR
  • GR-alpha
  • GR-beta
  • Max1
  • Nkx2-5
  • Sp1

Genomic Locations for ABCC8 Gene

Latest Assembly
chr11:17,392,498-17,476,879
(GRCh38/hg38)
Size:
84,382 bases
Orientation:
Minus strand

Previous Assembly
chr11:17,414,045-17,498,392
(GRCh37/hg19 by Entrez Gene)
Size:
84,348 bases
Orientation:
Minus strand

chr11:17,414,432-17,498,449
(GRCh37/hg19 by Ensembl)
Size:
84,018 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.
    Miscellaneous:
    • [Isoform 3]: Abundant isoform with prodiabetic properties, predominant in heart.

    Three dimensional structures from OCA and Proteopedia for ABCC8 Gene

    Alternative splice isoforms for ABCC8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCC8 Gene

Post-translational modifications for ABCC8 Gene

  • Glycosylation at Asn10 and Asn1049
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABCC8 Gene

Domains & Families for ABCC8 Gene

Gene Families for ABCC8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCC8 Gene

InterPro:
Blocks:
  • Sulphonylurea receptor family signature
  • Sulphonylurea receptor type 1 family signature
ProtoNet:

Suggested Antigen Peptide Sequences for ABCC8 Gene

GenScript: Design optimal peptide antigens:
  • Sulfonylurea receptor 1 (ABCC8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q09428

UniProtKB/Swiss-Prot:

ABCC8_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
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

UniProtKB/Swiss-Prot Function:
Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.
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

Phenotypes From GWAS Catalog for ABCC8 Gene

Gene Ontology (GO) - Molecular Function for ABCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005267 potassium channel activity IMP 24814349
GO:0005515 protein binding IPI --
GO:0005524 ATP binding IEA --
GO:0008281 sulfonylurea receptor activity 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:

miRNA for ABCC8 Gene

miRTarBase miRNAs that target ABCC8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCC8 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
golgi apparatus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0008282 inward rectifying potassium channel IDA 20610380
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of 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

Pathways by source for ABCC8 Gene

1 GeneGo (Thomson Reuters) pathway for ABCC8 Gene
  • Development_Leptin signaling via PI3K-dependent pathway

Gene Ontology (GO) - Biological Process for ABCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis IEA --
GO:0006813 potassium ion transport TAS 7502040
GO:0007565 female pregnancy IEA --
GO:0007613 memory IEA --
GO:0008542 visual learning 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glimepiride Approved Pharma Target, inducer, blocker Sulfonylurea compound 252
Glyburide Approved Pharma Target, blocker Kir6 (KATP) channel blocker 126
Nateglinide Approved, Investigational Pharma Target, inhibitor, blocker Insulin secretagog agent 24
Repaglinide Approved, Investigational Pharma Target, inhibitor, blocker Kir6 (KATP) channel blocker 63
Glipizide Approved, Investigational Pharma Target, inhibitor 42

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxychlorpropamide
  • N-(4-Chloro-2-hydroxybenzenesulfonyl)propane-1-carbamimidate
  • N-(4-Chloro-2-hydroxybenzenesulphonyl)propane-1-carbamimidate
  • N-(4-Chloro-2-hydroxybenzenesulphonyl)propane-1-carbamimidic acid
36892-36-1
7-Hydroxygliclazide
  • N'-{5-hydroxy-octahydrocyclopenta[c]pyrrol-2-yl}-N-(4-methylbenzenesulfonyl)carbamimidate
  • N'-{5-hydroxy-octahydrocyclopenta[c]pyrrol-2-yl}-N-(4-methylbenzenesulphonyl)carbamimidate
  • N'-{5-hydroxy-octahydrocyclopenta[c]pyrrol-2-yl}-N-(4-methylbenzenesulphonyl)carbamimidic acid
genes like me logo Genes that share compounds with ABCC8: view

Transcripts for ABCC8 Gene

mRNA/cDNA for ABCC8 Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
54 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCC8

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

Expression for ABCC8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ABCC8 Gene



Protein tissue co-expression partners for ABCC8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCC8

SOURCE GeneReport for Unigene cluster for ABCC8 Gene:

Hs.54470

Evidence on tissue expression from TISSUES for ABCC8 Gene

  • Pancreas(5)
  • Nervous system(4.6)
  • Heart(4.5)
  • Lung(2.6)
  • Muscle(2.5)
  • Blood(2.5)
  • Kidney(2.3)
  • Liver(2.2)
  • Skin(2.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCC8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ABCC8: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia ABCC8 30 31
  • 99.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABCC8 30 31
  • 92.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABCC8 30 31
  • 91.84 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abcc8 30 17 31
  • 89.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abcc8 30
  • 89.35 (n)
Oppossum
(Monodelphis domestica)
Mammalia ABCC8 31
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABCC8 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABCC8 30 31
  • 73.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABCC8 31
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8858 30
Zebrafish
(Danio rerio)
Actinopterygii abcc8 30 31
  • 71.46 (n)
OneToMany
CABZ01071494.1 31
  • 69 (a)
OneToMany
ABCC8 (2 of 3) 31
  • 65 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Sur 31 32
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C18C4.2 32
  • 22 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
ManyToMany
Species where no ortholog for ABCC8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCC8: view image

Paralogs for ABCC8 Gene

Paralogs for ABCC8 Gene

(19) SIMAP similar genes for ABCC8 Gene using alignment to 6 proteins:

  • ABCC8_HUMAN
  • E9PK50_HUMAN
  • H0YDH8_HUMAN
  • H0YE33_HUMAN
  • H0YEA9_HUMAN
  • H0YF51_HUMAN
genes like me logo Genes that share paralogs with ABCC8: view

Variants for ABCC8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCC8 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
39472 Pathogenic: Hyperinsulinemic hypoglycemia, familial, 1; not provided 17,444,325(-) T/C
NM_000352.6(ABCC8):c.1333-1013A>G
INTRON
830318 Uncertain Significance: Hyperinsulinemic hypoglycemia, familial, 1 17,395,258(-) T/A
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
836622 Pathogenic: not provided 17,415,314(-) AGTCG/A
NM_000352.6(ABCC8):c.2273_2276CGAC[1] (p.Asp760fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
845991 Pathogenic: not provided 17,406,967(-) GC/G
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
848198 Pathogenic: not provided 17,416,949(-) C/A
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)
NONSENSE,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABCC8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv59n21 CNV loss 19592680
esv3891935 CNV loss 25118596
nsv467712 CNV loss 19166990
nsv467713 CNV loss 19166990
nsv469895 CNV loss 16826518
nsv553567 CNV gain 21841781
nsv553583 CNV loss 21841781
nsv553584 CNV loss 21841781
nsv982989 CNV duplication 23825009

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)

Additional Variant Information for ABCC8 Gene

Human Gene Mutation Database (HGMD)
ABCC8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCC8

SNP Genotyping and Copy Number Assays for research

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

Disorders for ABCC8 Gene

MalaCards: The human disease database

(75) MalaCards diseases for ABCC8 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

ABCC8_HUMAN
  • 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 variants 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:10615958, ECO:0000269 PubMed:11018078, ECO:0000269 PubMed:11226335, ECO:0000269 PubMed:11867634, 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:8650576, ECO:0000269 PubMed:8751851, ECO:0000269 PubMed:8923011, ECO:0000269 PubMed:9618169, ECO:0000269 PubMed:9648840, ECO:0000269 PubMed:9769320}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. {ECO:0000269 PubMed:16613899, ECO:0000269 PubMed:16885549, ECO:0000269 PubMed:17213273, ECO:0000269 PubMed:17668386}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for ABCC8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for ABCC8 Gene

Publications for ABCC8 Gene

  1. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. (PMID: 19475716) Sandal T … Molven A (Clinical genetics 2009) 3 23 41 74
  2. Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. (PMID: 17378627) Greer RM … Cotterill AM (Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2007) 3 23 41 74
  3. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PMID: 16885549) Babenko AP … Froguel P (The New England journal of medicine 2006) 3 4 23 74
  4. Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. (PMID: 15356046) Magge SN … Stanley CA (The Journal of clinical endocrinology and metabolism 2004) 3 4 23 74
  5. Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study. (PMID: 15579791) Laukkanen O … Finnish Diabetes Prevention Study Group (The Journal of clinical endocrinology and metabolism 2004) 3 23 41 74

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Sources for ABCC8 Gene