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ABCC8 Gene

protein-coding   GIFtS: 69

GC11M017373
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: SUR, HRINS)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ABC36 1, 2
HHF1 1, 2, 5
HI 1, 2
HRINS 2, 3
MRP8 1, 2
PHHI 1, 2, 5
SUR 2, 3, 5
SUR1 1, 2, 3, 5
TNDM2 1, 2, 5
Descriptions
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 2
ATP-binding cassette, sub-family C, member 8 2
Sulfonylurea receptor 1 3
sulfonylurea receptor (hyperinsulinemia) 2
External Ids
HGNC: 591
Entrez Gene: 68332
UniProtKB: Q094283
Ensembl: ENSG000000060717
Search outside databases for aliases for ABCC8 gene

Previous GC identifers: GC11M018553 GC11M018356 GC11M017453 GC11M017378

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ABCC8:
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. Alternative splicing of this
gene has been observed; however, the transcript variants have not been fully described. [provided
by RefSeq]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ABCC8 gene  

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)

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M017373:     (about GC identifiers)

Start:
17,371,008 bp from pter
End:
17,455,025 bp from pter
Size:
84,018 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000011.8  NT_009237.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428 (See protein sequence)
Recommended Name: ATP-binding cassette transporter sub-family C member 8  
Size: 1581 amino acids; 177008 Da
Subunit: Associates with KCNJ11
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: A6NMX8 O75948 Q16583
Alternative splicing: 2 isoforms:  Q09428-1   Q09428-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000343.2  

    ENSEMBL proteins: 
    ENSP00000368807 ENSP00000303960 ENSP00000374467 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (SUR1)
    Human Recombinant Proteins from Abnova (ABCC8)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886 plasma membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for ABCC8: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ABCC8
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (SUR1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ABCC8)
    Novus Biologicals Antibodies for ABCC8

    Assays for ABCC8: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/7 InterPro domains/families (see all 7 ):
     IPR003593 ATPase_AAA+_core
     IPR003439 ABC_transporter-like
     IPR000388 Sulphorea_rcpt_N
     IPR017940 ABC_transporter_type1
     IPR001140 ABC_TM_transpt


       GeneDecks  ABCC8 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q09428

    ProtoNet protein and cluster: Q09428

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


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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABCC8)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCC8)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000352

                  Applied Biosystems Silencer® siRNAs for ABCC8

                  Sigma-Aldrich siRNA and siRNA Panels for ABCC8  
                         Sigma-Aldrich shRNA for ABCC8  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000352
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000352
                                     untagged cDNA clone in CMV expression vector: NM_000352 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000352

    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

    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

    4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Abcc8):

    digestive/alimentaryendocrine/exocrine glandhomeostasis/metabolismno phenotypic analysis

    5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004872 receptor activity IEA--
    GO:0005524 ATP binding TAS7502040
    GO:0008281 sulfonylurea receptor activity TAS7502040
    GO:0015079 potassium ion transmembrane transporter activity TAS7502040
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Millipore Pathways for ABCC8
      outward current
     Development Leptin signaling via PI3K-dependent pathway

       GeneDecks  ABCC8 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  ABCC8  (Your Favorite Gene powered by Ingenuity) 
     Type II Diabetes Mellitus Signaling

       GeneDecks  ABCC8 for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for ABCC8):
     hsa02010 ABC transporters
     hsa04930 Type II diabetes mellitus

       GeneDecks  ABCC8 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  ABCC8 


    5/37 Interacting proteins for ABCC8 (ENSP000003039603) via UniProtKB, MINT, and/or STRING (see all 37 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNJ11ENSP000003457083STRING (score=.999)
    KCNJ8ENSP000002406623STRING (score=.986)
    FOXA2ENSP000003663193STRING (score=.979)
    INSENSP000003707313STRING (score=.97)
    GCGENSP000003646473STRING (score=.954)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975 carbohydrate metabolic process NAS7716548
    GO:0006810 transport IEA--
    GO:0006813 potassium ion transport TAS7502040
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ABCC8
    10/33 Novoseek chemical compound relationships for ABCC8 gene (see all 33 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    sulfonylurea 98.19 667 17561960 (8), 17593344 (4), 17213273 (4), 11343328 (4) (see all 99)
    katp 96.66 451 10419549 (4), 18708750 (4), 11226335 (4), 15893323 (4) (see all 99)
    mgadp 91.03 48 16373383 (3), 10993895 (3), 18715873 (2), 12562963 (2) (see all 31)
    potassium 84.83 226 14707124 (3), 12496311 (2), 10506167 (2), 8607800 (2) (see all 99)
    mgatp 77.09 19 15962003 (4), 10993895 (3), 17395632 (2), 19237428 (2) (see all 10)
    atp 73.89 213 10206966 (4), 17510180 (4), 10601323 (3), 10581363 (3) (see all 92)
    8-azido-atp 73.38 8 10601323 (2), 10993895 (2), 10833411 (1), 10570926 (1)
    glucose 61.00 65 11272143 (3), 15579791 (3), 11289470 (2), 11145575 (2) (see all 40)
    adp 59.84 19 11073882 (4), 10893240 (2), 10581363 (2), 10601323 (1) (see all 12)
    dicyandiamide 58.33 1 15561900 (1)
    About this table

    3 PharmGKB drug compound relationships for ABCC8 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    antiarrhythmicsFA  8630239
    diazoxideFA  8630239
    tolbutamidePD  9568693
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABCC8)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCC8)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000352

                  Sigma-Aldrich siRNA and siRNA Panels for ABCC8  
                         Sigma-Aldrich shRNA for ABCC8  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000352  

    REFSEQ mRNAs for ABCC8 gene: 

    NM_000352.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000352  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000352
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000352
                                     untagged cDNA clone in CMV expression vector: NM_000352 

    Additional cDNA sequence: 

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

    18 DOTS entries:

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

    24/251 AceView cDNA sequences (see all 251 ):

    AA321670 BM352807 BQ417341 AA989322 BU074847 CA867782 BQ778221 CA773641 
    BU076098 BU950502 AA878719 BU949797 BQ778169 BU950622 BU069854 BQ631299 
    BM313666 BU069050 BM309932 BE222891 BQ267930 W60943 CA775057 BE220627 

    highest scoring ESTs for ABCC8:

    AF087138 BM545480 L78207 U63421 AA321670 AA878719 AA916790 AA938399 AA976083 AB209084 

    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


    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for ABCC8 (see all 15 )

    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:                                                                  

    About this scheme

    ECgene alternative splicing isoforms for ABCC8

    3 Ensembl transcripts including schematic representations:
    ENST00000379493  ENST00000302539  ENST00000389817  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ABCC8 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ABCC8

    1 / 2 / 3

    5 probe-sets matching ABCC8 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    53377_at2, 3 U95-B 1 1.00 1.00 0.89 0.99 AI682807 0.60 1.00 0.82 1

    53384_g_at2, 3 U95-B 1 1.00 1.00 0.90 0.76 AI682807 0.60 1.00 0.82 1
    41792_at2, 3 U95-A 2 1.00 0.97 0.93 1.30 L78243 0.20 1.00 0.72 1

    210246_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF087138 0.80 1.00 0.91 1

    210246_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ABCC8 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GCCACGGAAA

    SOURCE GeneReport for Unigene cluster: Hs.54470

    Expression variation in blood from EXPOLDB for ABCC8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ABCC8 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ABCC81   -- ATP-binding cassette, sub-family C (CFTR/MRP), member more 90.67(n)
    94.43(a)
    485402  XM_542520.2  XP_542520.2 
    chimpanzee
    (Pan troglodytes)
    ABCC81   -- ATP-binding cassette, sub-family C (CFTR/MRP), member more 98.88(n)
    98.9(a)
    451056  XM_508310.2  XP_508310.2 
    cow
    (Bos taurus)
    ABCC81   -- ATP-binding cassette, sub-family C (CFTR/MRP), member more 92.18(n)
    96.27(a)
    538996  XM_584132.3  XP_584132.3 
    rat
    (Rattus norvegicus)
    Abcc81   -- ATP-binding cassette, sub-family C (CFTR/MRP), member more 89.18(n)
    95.38(a)
    25559  NM_013039.1  NP_037171.1 
    mouse
    (Mus musculus)
    Abcc81, 5 7 (41.00 cM)5
    ATP-binding cassette, sub-family C (CFTR/MRP), member more1, 5 89.6(n)1
    95.51(a)1
    209271  NM_011510.31  NP_035640.21 
     AA4197335  AF0372745  (see all 49)
    About this table        Species with no ortholog for ABCC8

    ENSEMBL Gene Tree for ABCC8
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ABCC8 gene
    ABCC102  CFTR2  ABCC92  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/640 NCBI SNPs in ABCC8 are shown (see all 640 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 276)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs21889661,2
    A,C,F,H17456461(-) ACACAG/AACTCA 1 -- ng3113Minor allele frequency- A:0.34EU EA WA 1992
    rs7571101,2
    A,C,F,H17375053(-) TCATCG/TCCCCT 1 A/S mis19Minor allele frequency- C:0.01EA NA EU WA 1495
    rs37589531,2
    A,C,F,H17456123(-) GTCTTT/CCTTTT 1 -- ng31 trp35Minor allele frequency- C:0.41EA EU WA 1912
    --
    rs81926901,2
    C,F,H17371146(-) ACAGCG/ATCTTC 1 I/V mis1 ese35Minor allele frequency- A:0.06EU EA WA 1341
    rs10480951,2
    C,H17439854(+) TGGACA/GGCAGA 1 L/P mis1 ese35Minor allele frequency- G:0.00MN EU EA WA 590
    --
    rs71120301,2
    A,C17370521(+) attgtA/Gtcctg 1 -- ng510--------
    --
    rs71121381,2
    A,C17370589(+) tgtgaA/Ggagat 1 -- ng510--------
    rs10480981,2
    C,H17441671(+) CAAGAA/GCTTGA 1 F/L mis15Minor allele frequency- G:0.00MN EU EA WA 588
    --
    rs347318851,2
    C17455960(+) TATACA/GTTTTG 1 -- ng310--------
    rs10480941,2
    C17439761(+) TCATGG/ACGATG 1 V/A mis11Minor allele frequency- A:0.00MN 184
    About this table

    HapMap Linkage Disequilibrium images for ABCC8 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 600509   disorders: 256450  240800  610374  125853  606176  

    UniProtKB/Swiss-Prot: ABCC8_HUMAN, Q09428

  • Defects in ABCC8 are a cause of leucine-induced hypoglycemia (LIH) [MIM:240800]; also
    called leucine-sensitive hypoglycemia of infancy. LIH is a 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
  • Defects in ABCC8 are the cause of familial hyperinsulinemic hypoglycemia type 1 (HHF1)
    [MIM:256450]; also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or
    hyperinsulinism. HHF1 is the most common cause of persistent hypoglycemia in infancy and is due to
    defective negative feedback regulation of insulin secretion by low glucose levels. It causes
    nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive, often
    disorganized formation of new islets. Unless early and aggressive intervention is undertaken,
    brain damage from recurrent episodes of hypoglycemia may occur
  • Defects in ABCC8 are a cause of permanent neonatal diabetes mellitus (PNDM) [MIM:606176];
    also called permanent diabetes mellitus of infancy (PDMI). PNDM is a rare form of diabetes
    characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of
    life. Permanent neonatal diabetes requires lifelong therapy
  • Defects in ABCC8 are the cause of transient neonatal diabetes mellitus type 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
  • Defects in ABCC8 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also
    known as diabetes mellitus type 2, in Northern European Caucasians
  • 10/31 Novoseek disease relationships for ABCC8 gene (see all 31 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperinsulinism 93.49 93 12941782 (3), 18796520 (3), 11272143 (3), 15579781 (2) (see all 49)
    neonatal diabetes mellitus 89.12 16 17317760 (2), 16885549 (1), 17923772 (1), 18497752 (1) (see all 11)
    hypoglycemia 81.66 41 2166699 (3), 8314007 (2), 10615958 (2), 10334322 (2) (see all 23)
    nesidioblastosis 64.68 3 9130925 (1), 11912517 (1)
    insulinoma 62.87 3 9166666 (1), 10928959 (1), 1634534 (1)
    niddm 59.81 70 11692183 (4), 9519757 (4), 9075812 (3), 11343328 (3) (see all 26)
    developmental delay 56.48 3 17389331 (1), 16613899 (1)
    hyperglycemia 50.52 7 9075812 (1), 17389331 (1), 10819247 (1), 17207885 (1) (see all 5)
    hyperammonemia 47.42 2 17003566 (1), 9130925 (1)
    hyperinsulinemia 44.80 9 9799081 (2), 8028500 (1), 16416420 (1), 11030411 (1) (see all 5)
    About this table

    1 PharmGKB disease relationship for ABCC8 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    NIDDM (non insulin dependent diabetes mellitus)PD  9568693
    About this table

    GeneTests: ABCC8
    Familial Hyperinsulinism

    Human Gene Mutation Database: ABCC8
    Genetic Association Database: ABCC8
    Human Genome Epidemiology Navigator: ABCC8 (31 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/473 PubMed articles for ABCC8 gene (see all 473 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 6833 HGNC: 59 AceView: ABCC8 Ensembl:ENSG00000006071 euGenes: HUgn6833
    ECgene: ABCC8 H-InvDB: ABCC8
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=ABCC8
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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