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ABCC8 Gene

protein-coding   GIFtS: 69
GCID: GC11M017414

ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8


(Previous symbols: SUR, HRINS)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 81 2     TNDM22 5
SUR1 2 3 5     ABC362
HRINS1 2 3     HI2
SUR12 3 5     MRP82
Sulfonylurea Receptor (Hyperinsulinemia)1 2     SUR1delta22
Sulfonylurea Receptor 12 3     ATP-Binding Cassette Sub-Family C Member 82
HHF12 5     ATP-Binding Cassette Transporter Sub-Family C Member 82
PHHI2 5     

External Ids:    HGNC: 591   Entrez Gene: 68332   Ensembl: ENSG000000060717   OMIM: 6005095   UniProtKB: Q094283   

Export aliases for ABCC8 gene to outside databases

Previous GC identifers: GC11M018553 GC11M018356 GC11M017453 GC11M017378 GC11M017373 GC11M017098


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, sub-family C (CFTR/MRP), member 8) is a protein-coding gene. Diseases associated with ABCC8 include abcc8-related hyperinsulinism, and abcc8-related permanent neonatal diabetes mellitus. GO annotations related to this gene include ion channel binding and potassium ion transmembrane transporter activity. An important paralog of this gene is ABCC4.

UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428
Function: Putative 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCC8 gene promoter:
         GR   Max1   CREB   AML1a   Sp1   GR-beta   GR-alpha   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCC8 promoter sequence
   Search Chromatin IP Primers for ABCC8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCC8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.1   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.1

ABCC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCC8 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M017414:  view genomic region     (about GC identifiers)

Start:
17,414,432 bp from pter      End:
17,498,449 bp from pter
Size:
84,018 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family C member 8  
Size: 1581 amino acids; 176992 Da
Subunit: Interacts with KCNJ11
Secondary accessions: A6NMX8 E3UYX6 O75948 Q16583
Alternative splicing: 3 isoforms:  Q09428-1   Q09428-2   Q09428-3   (Abundant isoform with prodiabetic properties, predominant in heart)

Explore the universe of human proteins at neXtProt for ABCC8: NX_Q09428

Explore proteomics data for ABCC8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn10, Asn1049
  • Modification sites at PhosphoSitePlus

  • See ABCC8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000343.2  NP_001274103.1  

    ENSEMBL proteins: 
     ENSP00000435378   ENSP00000374467   ENSP00000437233   ENSP00000433638   ENSP00000431653  
     ENSP00000434893   ENSP00000303960  
    Reactome Protein details: Q09428

    ABCC8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ABCC8
    GenScript Custom Purified and Recombinant Proteins Services for ABCC8
    Novus Biologicals ABCC8 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCC8

    ABCC8 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ABCC8
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    OriGene Antibodies for ABCC8
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    Novus Biologicals ABCC8 Antibodies
    Abcam antibodies for ABCC8
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    ThermoFisher Antibodies for ABCC8
    LSBio Antibodies in human, mouse, rat for ABCC8

    ABCC8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ABCC8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABCC8
    Cloud-Clone Corp. CLIAs for ABCC8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCC: ATP binding cassette transporters / subfamily C

    Selected InterPro protein domains (see all 8):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR000388 Sulphorea_rcpt

    Graphical View of Domain Structure for InterPro Entry Q09428

    ProtoNet protein and cluster: Q09428

    2 Blocks protein domains:
    IPB000388 Sulphonylurea receptor family signature
    IPB000844 Sulphonylurea receptor type 1 family signature


    UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428
    Similarity: Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208)
    subfamily
    Similarity: Contains 2 ABC transmembrane type-1 domains
    Similarity: Contains 2 ABC transporter domains


    ABCC8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCC8_HUMAN, Q09428
    Function: Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive
    K(+) channels and insulin release

         Genatlas biochemistry entry for ABCC8:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0008281sulfonylurea receptor activity IEA--
    GO:0015079potassium ion transmembrane transporter activity TAS7502040
    GO:0016887ATPase activity ----
         
    ABCC8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ABCC8:
     Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Abcc8):
     endocrine/exocrine gland  homeostasis/metabolism  no phenotypic analysis 

    ABCC8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ABCC8: Abcc8tm1Jbry Abcc8tm1.1Mgn

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCC8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCC8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCC8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCC8

    miRNA
    Products:
        
    miRTarBase miRNAs that target ABCC8:
    hsa-mir-335-5p (MIRT018447)

    Block miRNA regulation of human, mouse, rat ABCC8 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ABCC8:
    hsa-miR-582-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABCC8
    Predesigned siRNA for gene silencing in human, mouse, rat ABCC8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABCC8

    Clone
    Products:
         
    OriGene clones in human, mouse for ABCC8 (see all 6)
    OriGene ORF clones in mouse, rat for ABCC8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABCC8 (NM_000352)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCC8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCC8

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ABCC8 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCC8_HUMAN, Q09428: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    endoplasmic reticulum2
    mitochondrion2
    extracellular1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IDA--
    GO:0016021integral component of membrane ----

    ABCC8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCC8 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABC transporters0.69
    2Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    3Type II diabetes mellitus
    Type II diabetes mellitus0.38
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    4Inwardly rectifying K+ channels
    Inwardly rectifying K+ channels0.82
    ATP sensitive Potassium channels0.00
    5Integration of energy metabolism
    Integration of energy metabolism0.75
    Regulation of Insulin Secretion0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ABCC8
        Development Leptin signaling via PI3K-dependent pathway

    1 BioSystems Pathway for ABCC8
        FOXA2 and FOXA3 transcription factor networks

    3 Reactome Pathways for ABCC8
        ABC-family proteins mediated transport
    ATP sensitive Potassium channels
    Regulation of insulin secretion

    2 PharmGKB Pathways for ABCC8
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics

    3 Kegg Pathways  (Kegg details for ABCC8):
        ABC transporters
    Insulin secretion
    Type II diabetes mellitus


    ABCC8 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCC8: 
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCC8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABCC8 (Q094283 ENSP000003744674) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSAO437683, ENSP000003417434I2D: score=2 STRING: ENSP00000341743
    KCNJ11Q146543, ENSP000003457084I2D: score=1 STRING: ENSP00000345708
    KCNJ8Q158423, ENSP000002406624I2D: score=1 STRING: ENSP00000240662
    CRYBB1P536743, ENSP000002159394I2D: score=2 STRING: ENSP00000215939
    RAPGEF4Q8WZA23, ENSP000003802714I2D: score=1 STRING: ENSP00000380271
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process NAS7716548
    GO:0006112energy reserve metabolic process TAS--
    GO:0006810transport ----
    GO:0006813potassium ion transport TAS7502040
    GO:0007165signal transduction TAS7502040

    ABCC8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCC8

    1 HMDB Compound for ABCC8    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    Selected DrugBank Compounds for ABCC8 (see all 12)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GlyburideApo-Glibenclamide (see all 4)10238-21-8targetmodulator12213059 12213829 9990013 12145099 12031979 12107069
    GlycodiazineGlidiazine (see all 2)339-44-6targetinducer12213059 12213829 9990013 12145099 12031979 12107069
    NateglinideNateglinide [INN] (see all 2)105816-04-4targetinhibitor12604678 11716850 10773014 12764427 11728565 12196472
    RepaglinideAG-EE 388 ZW (see all 4)135062-02-1targetinhibitor15219283 11716850 10773014 15380228 11728565 12196472
    Gliclazide1-(3-Azabicyclo(3.3.0)oct-3-yl)-3-(p-tolylsulfonyl)urea (see all 5)21187-98-4targetbinder11484080 11078468 11574406 11078469 12475777
    GlipizideGlipizida [INN-Spanish] (see all 3)29094-61-9targetinhibitor11484080 11078468 11574406 11078469 12475777
    Gliquidone-- 33342-05-1targetinhibitor11484080 11078468 11574406 11078469 12475777
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17325510 17457130 16931986 16897043
    GlimepirideGlimepirid (see all 4)93479-97-1targetinducer8172912 8529521 8911984
    MitiglinideKAD-1229 (see all 2)145375-43-5targetinhibitor11716850 17592198 17003348

    Selected Novoseek inferred chemical compound relationships for ABCC8 gene (see all 58)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sulfonylurea 98.1 692 17561960 (8), 17593344 (4), 17213273 (4), 11343328 (4) (see all 99)
    katp 96.6 473 10419549 (4), 18708750 (4), 11226335 (4), 15893323 (4) (see all 99)
    mgadp 91.2 49 16373383 (3), 10993895 (3), 18715873 (2), 12562963 (2) (see all 32)
    diazoxide 90.5 30 11073882 (2), 8865068 (2), 11999683 (2), 14707124 (2) (see all 22)
    tolbutamide 87.1 25 10526167 (3), 11289470 (3), 9350615 (3), 15678092 (2) (see all 14)
    glibenclamide 86.7 85 11714894 (4), 15678092 (4), 12145099 (3), 16306272 (3) (see all 46)
    potassium 84.9 237 14707124 (3), 12496311 (2), 10506167 (2), 8607800 (2) (see all 99)
    repaglinide 79.5 22 15678092 (5), 15219283 (2), 10773014 (2), 16865362 (1) (see all 8)
    mgatp 76.5 19 15962003 (4), 10993895 (3), 17395632 (2), 19237428 (2) (see all 10)
    pinacidil 75.6 2 15561900 (1), 10407015 (1)

    1 PharmGKB related drug/compound annotation for ABCC8 gene    About this table
    Drug/compound PharmGKB Annotation
    repaglinideCA  



    ABCC8 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ABCC8 gene (2 alternative transcripts): 
    NM_000352.4  NM_001287174.1  

    Unigene Cluster for ABCC8:

    ATP-binding cassette, sub-family C (CFTR/MRP), member 8
    Hs.54470  [show with all ESTs]
    Unigene Representative Sequence: NM_000352
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000526037 ENST00000531642 ENST00000389817 ENST00000526168 ENST00000525022
    ENST00000532220 ENST00000528374 ENST00000527905 ENST00000531891 ENST00000531137
    ENST00000524561 ENST00000526921 ENST00000529967 ENST00000530147 ENST00000531911
    ENST00000532728(uc010rcy.1) ENST00000528202 ENST00000526002
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate ABCC8:
    hsa-miR-582-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat ABCC8
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABCC8 (NM_000352)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCC8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCC8
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ABCC8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCC8
      QuantiTect SYBR Green Assays in human, mouse, rat ABCC8
      QuantiFast Probe-based Assays in human, mouse, rat ABCC8

    Additional mRNA sequence: 

    AB209084.1 AF087138.1 AK297560.1 HM635782.1 L40625.1 L78207.1 U63421.1 

    18 DOTS entries:

    DT.100045073  DT.97776554  DT.100022514  DT.40274314  DT.100658976  DT.100000529  DT.100016478  DT.100045075 
    DT.100045078  DT.95290482  DT.100045074  DT.100658979  DT.92423014  DT.95127105  DT.99937129  DT.99954317 
    DT.100045079  DT.425848 

    Selected AceView cDNA sequences (see all 251):

    BM313666 BU076098 BU950000 BE674412 BU790520 CA942662 CA773641 CA943400 
    BE222891 BU069106 BQ778221 BQ270470 CB068783 BU785085 CA868541 BQ130080 
    BM730046 BU785359 BQ776586 BU076364 BM309932 BQ477400 BU074847 AI887963 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ABCC8 (see all 15)    About this scheme

    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:                                                              -                             -                                                               

    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:                                                                                                                                                            

    ExUns: 34a · 34b · 34c ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39a · 39b
    SP1:                          -                                       
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for ABCC8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ABCC8 expression in normal human tissues (normalized intensities)      ABCC8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCACGGAAA
    ABCC8 Expression
    About this image


    ABCC8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Pancreas (Endocrine System)    fully expand to see all 5 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Beta-like cells
    ABCC8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCC8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.54470
        Pathway & Disease-focused RT2 Profiler PCR Array including ABCC8: 
              Diabetes in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ABCC8 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcc81 , 5 ATP-binding cassette, sub-family C (CFTR/MRP), member more1, 5 89.58(n)1
    95.45(a)1
      7 (29.66 cM)5
    209271  NM_011510.31  NP_035640.21 
     461045235 
    chicken
    (Gallus gallus)
    Aves ABCC81 ATP-binding cassette, sub-family C (CFTR/MRP), member more 73.73(n)
    83.06(a)
      423072  XM_421005.4  XP_421005.2 
    lizard
    (Anolis carolinensis)
    Reptilia ABCC86
    ATP-binding cassette, sub-family C (CFTR/MRP), mem...
    81(a)
    1 ↔ 1
    1(66778470-66870434)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.88582 Xenopus laevis transcribed sequence with moderate similarity more 79.52(n)    BX844226.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcc81 ATP-binding cassette, sub-family C (CFTR/MRP), member more 71.46(n)
    77.11(a)
      553281  NM_001172647.2  NP_001166118.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sur3 heart development sulfonylurea receptor 24(a)   31B1   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCC8 gene
    ABCC42  ABCC122  ABCC12  ABCC52  ABCC62  ABCC32  ABCC22  ABCC92  
    ABCC112  
    Selected SIMAP similar genes for ABCC8 using alignment to 6 protein entries:     ABCC8_HUMAN (see all proteins) (see all similar genes):
    ABCC9    ABCB4    DKFZp434I2115    TAP1    CFTR    MOAT-B
    ABCC1    DKFZp781G125    NG-TRA    ABCC12    ABCC2    ABCC4
    ara    ABCC5    ABCC11    ABCC3    ABC-transporter    ABCC6

    ABCC8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABCC8 (see all 2318)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289363711,2,,4
    CFamilial hyperinsulinemic hypoglycemia 1 (HHF1)4 pathogenic117340019(-) TGGCCC/TGGGCC 2 R W mis1 ese30--------
    rs289363701,2,,4
    CFamilial hyperinsulinemic hypoglycemia 1 (HHF1)4 untested117342665(-) CGTGCA/C/GCTACG 3 H P R mis10--------
    rs582417081,2,,4
    C,FFamilial hyperinsulinemic hypoglycemia 1 (HHF1)4 --17374314(+) CTCACG/AGATCT 2 /R /C mis18Minor allele frequency- A:0.01MN WA EA NA EU 7061
    rs672546691,2,,4
    C,FFamilial hyperinsulinemic hypoglycemia 1 (HHF1)4 --17394286(+) ATTACA/GGATCT 2 R C mis17Minor allele frequency- G:0.00MN NA EU 6991
    rs606375581,2,,4
    CFamilial hyperinsulinemic hypoglycemia 1 (HHF1)4 --17415833(+) ATGTTG/CTGATA 2 /H /Q mis11Minor allele frequency- C:0.00--356
    rs2016826341,2,,4
    Familial hyperinsulinemic hypoglycemia 1 (HHF1)4 --17420652(+) CCACCA/GCAGGT 2 R W mis10--------
    VAR_0313824
    Familial hyperinsulinemic hypoglycemia 1 (HHF1)4--see VAR_0313822 L P mis40--------
    VAR_0313504
    Familial hyperinsulinemic hypoglycemia 1 (HHF1)4--see VAR_0313502 V D mis40--------
    VAR_0297844
    Leucine-induced hypoglycemia (LIH)4--see VAR_0297842 R H mis40--------
    VAR_0150084
    Familial hyperinsulinemic hypoglycemia 1 (HHF1)4--see VAR_0150082 R Q mis40--------

    HapMap Linkage Disequilibrium report for ABCC8 (17414432 - 17498449 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ABCC8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv467712CNV Loss19166990
    nsv897018CNV Loss21882294
    dgv59n21CNV Loss19592680
    nsv469895CNV Loss16826518
    dgv1036n71CNV Loss21882294
    nsv467713CNV Loss19166990
    dgv1035n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): ABCC8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCC8
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCC8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600509   
    OMIM disorders: 256450  240800  610374  125853  606176  
    UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • 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. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for ABCC8 (see all 56):    About MalaCards
    abcc8-related hyperinsulinism    abcc8-related permanent neonatal diabetes mellitus    abcc8-related transient neonatal diabetes mellitus 2    hypoglycemia
    hyperinsulinemic hypoglycemia, familial, 1    leucine-sensitive hypoglycemia of infancy    diabetes mellitus, transient neonatal 2    hyperinsulinemic hypoglycemia
    permanent neonatal diabetes mellitus    diabetes, permanent neonatal    familial hyperinsulinism    maturity-onset diabetes of the young, type 1
    hyperinsulinism, focal    diabetes mellitus, 6q24-related transient neonatal    hyperinsulinism    diabetes mellitus
    neonatal diabetes mellitus    fanconi bickel syndrome    transient neonatal diabetes mellitus    autosomal dominant disease

    7 diseases from the University of Copenhagen DISEASES database for ABCC8:
    Hyperinsulinemic hypoglycemia     Hyperinsulinism     Hypoglycemia     Diabetes mellitus
    Insulinoma     Hyperglycemia     Beckwith-Wiedemann syndrome

    ABCC8 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ABCC8 gene (see all 32)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperinsulinism 93.8 98 12941782 (3), 18796520 (3), 11272143 (3), 15579781 (2) (see all 53)
    neonatal diabetes mellitus 90.2 17 17317760 (2), 16885549 (1), 17923772 (1), 18497752 (1) (see all 12)
    hypoglycemia 81.6 41 2166699 (3), 8314007 (2), 10615958 (2), 10334322 (2) (see all 23)
    nesidioblastosis 63.6 3 9130925 (1), 11912517 (1)
    insulinoma 62.9 3 9166666 (1), 10928959 (1), 1634534 (1)
    developmental delay 59.6 3 17389331 (1), 16613899 (1)
    niddm 59.3 70 11692183 (4), 9519757 (4), 9075812 (3), 11343328 (3) (see all 26)
    hyperglycemia 49.6 7 9075812 (1), 17389331 (1), 10819247 (1), 17207885 (1) (see all 5)
    hyperammonemia 49.5 2 17003566 (1), 9130925 (1)
    ketoacidosis 47.2 1 17389331 (1)

    GeneTests: ABCC8
    GeneReviews: ABCC8
    Genetic Association Database (GAD): ABCC8
    Human Genome Epidemiology (HuGE) Navigator: ABCC8 (47 documents)

    Export disorders for ABCC8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABCC8 gene, integrated from 10 sources (see all 582):
    (articles sorted by number of sources associating them with ABCC8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. (PubMed id 8635661)1, 2, 4, 9 Inoue H.... Aguilar-Bryan L. (Diabetes 1996)
    2. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. (PubMed id 7716548)1, 2, 3, 9 Thomas P.M.... Bryan J. (Science 1995)
    3. Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. (PubMed id 10615958)1, 2, 9 Tanizawa Y.... Oka Y. (Diabetes 2000)
    4. Metabolic control in type 2 diabetes is associated with sulfonylurea receptor-1 (SUR-1) but not with KCNJ11 polymorphisms. (PubMed id 19766903)1, 4, 9 Nikolac N....Zjacic Rotkvic V. (Arch. Med. Res. 2009)
    5. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. (PubMed id 16613899)1, 2, 9 Proks P.... Ellard S. (Hum. Mol. Genet. 2006)
    6. [Study on association between gestational diabetes mellitus and sulfonylurea receptor-1 gene polymorphism]. (PubMed id 15840308)1, 4, 9 Niu X.M....Zhang Y. (Zhonghua Fu Chan Ke Za Zhi 2005)
    7. Common variants in the ATP-sensitive K+ channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studies and meta-analyses. (PubMed id 15842514)1, 4, 9 van Dam R.M....Feskens E.J. (Diabet. Med. 2005)
    8. Membrane topology of the amino-terminal region of the sulfonylurea receptor. (PubMed id 10506167)1, 2, 9 Raab-Graham K.F....Vandenberg C.A. (J. Biol. Chem. 1999)
    9. Physical activity modifies the effect of SNPs in the SLC2A2 (GLUT2) and ABCC8 (SUR1) genes on the risk of developing type 2 diabetes. (PubMed id 17636114)1, 4, 9 KilpelAoinen T.O....Laakso M. (Physiol. Genomics 2007)
    10. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PubMed id 16885549)1, 2, 9 Babenko A.P.... Froguel P. (N. Engl. J. Med. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6833 HGNC: 59 AceView: ABCC8 Ensembl:ENSG00000006071 euGenes: HUgn6833
    ECgene: ABCC8 Kegg: 6833 H-InvDB: ABCC8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCC8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCC8[genesymbol]
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q09428

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCC8 gene:
    Search GeneIP for patents involving ABCC8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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