ABCC8 Gene
protein-coding GIFtS : 68
GCID: GC11 M017414
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (Previous symbols: SUR, HRINS )
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Aliasesfor ABCC8 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8 1 2 HI1 2 SUR1 2 3 5 MRP81 2 SUR11 2 3 5 Sulfonylurea Receptor 12 3 HRINS1 2 3 SUR1delta22 HHF11 2 5 ATP-Binding Cassette Sub-Family C Member 82 PHHI1 2 5 ATP-Binding Cassette Transporter Sub-Family C Member 82 TNDM21 2 5 Sulfonylurea Receptor (Hyperinsulinemia)2 ABC361 2
Export aliases for ABCC8 gene to outside databases Previous GC identifers: GC11M018553 GC11M018356 GC11M017453 GC11M017378 GC11M017373 GC11M017098
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Summariesfor ABCC8 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene 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, Jul 2008) 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
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Genomic Viewsfor 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000011.9 NC_018922.1 NT_009237.18 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ABCC8 gene promoter: GR Max1 CREB AML1a Sp1 GR-beta GR-alpha Nkx2-5 Other transcription factors Search SABiosciences Chromatin IP Primers for ABCC8 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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) 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
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Proteinsfor ABCC8 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section 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
Subcellular location : Membrane; Multi-pass membrane protein
Secondary accessions : A6NMX8 E3UYX6 O75948 Q16583Alternative 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 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q09428 ABCC8 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000343.2 ENSEMBL proteins: ENSP00000435378 ENSP00000374467 ENSP00000437233 ENSP00000433638 ENSP00000431653 ENSP00000434893 ENSP00000303960 Reactome Protein details: Q09428 Human Recombinant Protein Products: Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view) : About this table
ABCC8 for ontologies About GeneDecksing ABCC8 Antibody Products: Assay Products for ABCC8:
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Protein
Domains / Familiesfor ABCC8 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ABCC8 for domains About GeneDecksing 5/8 InterPro domains/families (see all 8 ):
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 superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamilySimilarity : Contains 2 ABC transmembrane type-1 domainsSimilarity : Contains 2 ABC transporter domains
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Functionfor ABCC8 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: 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 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC8 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC8OriGene 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
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC8
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
ABCC8 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for ABCC8 :Animal Models: Mouse knock-outs for ABCC8: Abcc8 tm1Jbry Abcc8 tm1.1Mgn 3 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Abcc8) :
ABCC8 for phenotypes About GeneDecksing
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Pathways & Interactionsfor ABCC8 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/12 super-pathways (see all 12 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Potassium Channels 2 Regulation of Insulin Secretion 3 Type II diabetes mellitus 4 ABC-family proteins mediated transport 5 Development_Leptin signaling via PI3K-dependent pathway
Pathway sources See GeneCards unified pathways Show all pathways 2 EMD Millipore Pathways for ABCC8 1 GeneGo (Thomson Reuters) Pathway for ABCC8 1 BioSystems Pathway for ABCC8 5/9
Reactome Pathways for ABCC8 (see all 9 )2 PharmGKB Pathways for ABCC8 2
Kegg Pathways (Kegg details for ABCC8) :
ABCC8 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCC8 STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)5/15 Interacting proteins for ABCC8 (Q09428 3 ENSP00000374467 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 15 )About this table Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16 ): About this table
ABCC8 for ontologies About GeneDecksing
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Drugs & Compoundsfor ABCC8 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
ABCC8 for compounds About GeneDecksing Browse Tocris compounds for ABCC8 1 HMDB Compound for ABCC8 About this table 10/13 DrugBank Compounds for ABCC8 (see all 13 ) About this table 10/58 Novoseek 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)
2 PharmGKB related drug/compound annotation for ABCC8 gene About this table Search CenterWatch for drugs/clinical trials and news about ABCC8
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Transcriptsfor ABCC8 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for ABCC8 gene: NM_000352.3 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 18/19 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 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC8 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC8OriGene 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
Additional cDNA 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 24/251 AceView cDNA sequences (see all 251 ):
BE220627 BU785085 BQ270470 BM730046 BU949797 BU069106 CA772499 BM353210 BU785359 BU950622 BM504861 BU790038 W60943 CA771074 BU950000 CA775057 CA868541 CB068953 CA774798 BE218169 BE674412 CB069173 BQ786907 CA867782 GeneLoc Exon Structure 5/15 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
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Expression for ABCC8 gene
(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™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section ABCC8 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCCACGGAAA
About this image ABCC8 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table Stem Cell Differentiation: 1 LifeMap Cell Name Category beta-like cells (Derivation of beta c... )Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See ABCC8 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ABCC8 SOURCE GeneReport for Unigene cluster: Hs.54470 SABiosciences Expression via Pathway-Focused PCR Array including ABCC8 : Diabetes in human mouse rat
Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCC8Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ABCC8 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCC8 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCC8 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC8
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Orthologsfor ABCC8 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for ABCC8 gene from 7/19 species (see all 19 ) About this table
ENSEMBL Gene Tree for ABCC8 (if available)TreeFam Gene Tree for ABCC8 (if available)
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Paralogsfor ABCC8 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ABCC8 gene ABCC4 2 ABCC12 2 ABCC1 2 ABCC10 2 CFTR 2 ABCC5 2 ABCC3 2 ABCC6 2 ABCC2 2 ABCC11 2 ABCC9 2 18/20 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
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Genomic Variantsfor ABCC8 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 11 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ABCC8 (17414432 - 17498449 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 7 variations for ABCC8 7 CNVs : 48756 2165 48754 48755 48757 48753 48752 Human Gene Mutation Database (HGMD) : ABCC8 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCC8
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Disorders
/ Diseasesfor ABCC8 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
ABCC8 for disorders About GeneDecksing OMIM gene information: 600509 OMIM 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 known as 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 congenital hyperinsulinism. HHF 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 diabetes mellitus permanent neonatal (PNDM) [MIM:606176]. PNDM is 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 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 20/46 diseases for ABCC8 (see all 46 ): About MalaCards hyperinsulinemic hypoglycemia hypoglycemia of infancy diabetes mellitus hypoglycemia diabetes mellitus, noninsulin-dependent leucine-sensitive hypoglycemia of infancy hyperinsulinemic hypoglycemia, familial, 1 persistent hyperinsulinemic hypoglycemia of infancy neonatal diabetes mellitus permanent neonatal diabetes mellitus fanconi-bickel syndrome beckwith-wiedemann syndrome diabetes, permanent neonatal transient neonatal diabetes mellitus autosomal dominant disease hyperinsulinism type 2 diabetes mellitus hyperinsulinism, focal glucose intolerance usher syndrome 6 diseases from the University of Copenhagen DISEASES database for ABCC8 :Hyperinsulinemic hypoglycemia Hyperinsulinism Hypoglycemia Diabetes mellitus Beckwith-Wiedemann syndrome Hyperglycemia 10/32 Novoseek 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 Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Genetic Association Database (GAD): ABCC8 Human Genome Epidemiology (HuGE) Navigator: ABCC8 (47 documents) Export disorders for ABCC8 gene to outside databases
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Publicationsfor ABCC8 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ABCC8 gene, integrated from 9 sources (see all 570 ): (articles sorted by number of sources associating them with ABCC8) Utopia : connect your pdf to the dynamic world of online information
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. (1996) 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. (1995) 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. (2000) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. (PubMed id 16613899) 1 , 2 , 9 Proks P.... Ellard S. (2006) [Study on association between gestational diabetes mellitus and sulfonylurea receptor-1 gene polymorphism] (PubMed id 15840308) 1 , 4, 9 Niu X.M....Zhang Y. (2005) 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. (2005) Membrane topology of the amino-terminal region of the sulfonylurea receptor. (PubMed id 10506167) 1 , 2 , 9 Raab-Graham K.F....Vandenberg C.A. (1999) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PubMed id 16885549) 1 , 2 , 9 Babenko A.P.... Froguel P. (2006) Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. (PubMed id 12540637) 1 , 4, 9 Gloyn A.L....Frayling T.M. (2003) Sulfonylurea receptor -1 (SUR1): genetic and metabolic evidences for a role in the susceptibility to type 2 diabetes mellitus. (PubMed id 11938023) 1 , 4, 9 Reis A.F. and Velho G. (2002)
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Genome Databases showing ABCC8 gene
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Specialized Databases showing ABCC8 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for ABCC8 Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCC8 ABCMdb http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q09428
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About This Section 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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Productsfor ABCC8 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for ABCC8 OriGene shRNA RFP for ABCC8 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ABCC8 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCC8 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ABCC8 OriGene 3'-UTR Clone for ABCC8 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC8 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC8 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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ThermoFisher Antibodies for ABCC8
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCC8
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