Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ABCC8 (ATP binding cassette subfamily C member 8)

Identity

Alias_namesSUR
HRINS
ATP-binding cassette
Alias_symbol (synonym)HI
PHHI
SUR1
MRP8
ABC36
HHF1
TNDM2
Other aliasSUR1delta2
HGNC (Hugo) ABCC8
LocusID (NCBI) 6833
Atlas_Id 52464
Location 11p15.1  [Link to chromosome band 11p15]
Location_base_pair Starts at 17392885 and ends at 17476845 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		ABCC8 (11p15.1) / ABCC8 (11p15.1)PLEKHA7 (11p15.1) / ABCC8 (11p15.1)TEAD1 (11p15.3) / ABCC8 (11p15.1)
VCL (10q22.2) / ABCC8 (11p15.1)PLEKHA7 11p15.1 / ABCC8 11p15.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ABCC8   59
LRG (Locus Reference Genomic)LRG_790
Cards
Entrez_Gene (NCBI)ABCC8  6833  ATP binding cassette subfamily C member 8
AliasesABC36; HHF1; HI; HRINS; 
MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
GeneCards (Weizmann)ABCC8
Ensembl hg19 (Hinxton)ENSG00000006071 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000006071 [Gene_View]  chr11:17392885-17476845 [Contig_View]  ABCC8 [Vega]
ICGC DataPortalENSG00000006071
TCGA cBioPortalABCC8
AceView (NCBI)ABCC8
Genatlas (Paris)ABCC8
WikiGenes6833
SOURCE (Princeton)ABCC8
Genetics Home Reference (NIH)ABCC8
Genomic and cartography
GoldenPath hg38 (UCSC)ABCC8  -     chr11:17392885-17476845 -  11p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCC8  -     11p15.1   [Description]    (hg19-Feb_2009)
EnsemblABCC8 - 11p15.1 [CytoView hg19]  ABCC8 - 11p15.1 [CytoView hg38]
Mapping of homologs : NCBIABCC8 [Mapview hg19]  ABCC8 [Mapview hg38]
OMIM125853   240800   256450   600509   606176   610374   
Gene and transcription
Genbank (Entrez)AB209084 AF087138 AK297560 AW444836 BC167829
RefSeq transcript (Entrez)NM_000352 NM_001287174
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCC8
Cluster EST : UnigeneHs.54470 [ NCBI ]
CGAP (NCI)Hs.54470
Alternative Splicing GalleryENSG00000006071
Gene ExpressionABCC8 [ NCBI-GEO ]   ABCC8 [ EBI - ARRAY_EXPRESS ]   ABCC8 [ SEEK ]   ABCC8 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCC8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6833
GTEX Portal (Tissue expression)ABCC8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ09428   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ09428  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ09428
Splice isoforms : SwissVarQ09428
PhosPhoSitePlusQ09428
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC_transporter-like    ABC_transporter_CS    ABCC8    P-loop_NTPase    Sulphorea_rcpt   
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCC8
DMDM Disease mutations6833
Blocks (Seattle)ABCC8
SuperfamilyQ09428
Human Protein AtlasENSG00000006071
Peptide AtlasQ09428
HPRD02741
IPIIPI00219696   IPI00871283   IPI00980030   IPI00980638   IPI00983865   IPI00983260   IPI00979785   
Protein Interaction databases
DIP (DOE-UCLA)Q09428
IntAct (EBI)Q09428
FunCoupENSG00000006071
BioGRIDABCC8
STRING (EMBL)ABCC8
ZODIACABCC8
Ontologies - Pathways
QuickGOQ09428
Ontology : AmiGOcellular glucose homeostasis  potassium channel activity  ATP binding  mitochondrion  plasma membrane  potassium ion transport  signal transduction  female pregnancy  voltage-gated potassium channel complex  sulfonylurea receptor activity  ATP-sensitive potassium channel complex  response to pH  response to zinc ion  negative regulation of low-density lipoprotein particle clearance  ATP-activated inward rectifier potassium channel activity  syntaxin binding  synaptic vesicle membrane  response to lipopolysaccharide  response to insulin  sarcolemma  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase-coupled anion transmembrane transporter activity  ion channel binding  negative regulation of insulin secretion  regulation of insulin secretion  transmembrane transport  negative regulation of glial cell proliferation  negative regulation of neuroblast migration  cellular response to organic substance  potassium ion transmembrane transport  ATP hydrolysis coupled anion transmembrane transport  positive regulation of uterine smooth muscle relaxation  positive regulation of voltage-gated potassium channel activity  positive regulation of tumor necrosis factor secretion  positive regulation of maintenance of permeability of blood-brain barrier  
Ontology : EGO-EBIcellular glucose homeostasis  potassium channel activity  ATP binding  mitochondrion  plasma membrane  potassium ion transport  signal transduction  female pregnancy  voltage-gated potassium channel complex  sulfonylurea receptor activity  ATP-sensitive potassium channel complex  response to pH  response to zinc ion  negative regulation of low-density lipoprotein particle clearance  ATP-activated inward rectifier potassium channel activity  syntaxin binding  synaptic vesicle membrane  response to lipopolysaccharide  response to insulin  sarcolemma  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase-coupled anion transmembrane transporter activity  ion channel binding  negative regulation of insulin secretion  regulation of insulin secretion  transmembrane transport  negative regulation of glial cell proliferation  negative regulation of neuroblast migration  cellular response to organic substance  potassium ion transmembrane transport  ATP hydrolysis coupled anion transmembrane transport  positive regulation of uterine smooth muscle relaxation  positive regulation of voltage-gated potassium channel activity  positive regulation of tumor necrosis factor secretion  positive regulation of maintenance of permeability of blood-brain barrier  
Pathways : KEGGABC transporters    Insulin secretion    Type II diabetes mellitus   
NDEx NetworkABCC8
Atlas of Cancer Signalling NetworkABCC8
Wikipedia pathwaysABCC8
Orthology - Evolution
OrthoDB6833
GeneTree (enSembl)ENSG00000006071
Phylogenetic Trees/Animal Genes : TreeFamABCC8
HOVERGENQ09428
HOGENOMQ09428
Homologs : HomoloGeneABCC8
Homology/Alignments : Family Browser (UCSC)ABCC8
Gene fusions - Rearrangements
Fusion : MitelmanPLEKHA7/ABCC8 [11p15.1/11p15.1]  [t(11;11)(p15;p15)]  
Fusion : MitelmanVCL/ABCC8 [10q22.2/11p15.1]  [t(10;11)(q22;p15)]  
Fusion: TCGAPLEKHA7 11p15.1 ABCC8 11p15.1 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCC8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCC8
dbVarABCC8
ClinVarABCC8
1000_GenomesABCC8 
Exome Variant ServerABCC8
ExAC (Exome Aggregation Consortium)ABCC8 (select the gene name)
Genetic variants : HAPMAP6833
Genomic Variants (DGV)ABCC8 [DGVbeta]
DECIPHERABCC8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCC8 
Mutations
ICGC Data PortalABCC8 
TCGA Data PortalABCC8 
Broad Tumor PortalABCC8
OASIS PortalABCC8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCC8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCC8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ABCC8
DgiDB (Drug Gene Interaction Database)ABCC8
DoCM (Curated mutations)ABCC8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCC8 (select a term)
intoGenABCC8
Cancer3DABCC8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125853    240800    256450    600509    606176    610374   
Orphanet20384    20387    8028    11160    11541    14458    14459   
MedgenABCC8
Genetic Testing Registry ABCC8
NextProtQ09428 [Medical]
TSGene6833
GENETestsABCC8
Target ValidationABCC8
Huge Navigator ABCC8 [HugePedia]
snp3D : Map Gene to Disease6833
BioCentury BCIQABCC8
ClinGenABCC8 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6833
Chemical/Pharm GKB GenePA24395
Clinical trialABCC8
Miscellaneous
canSAR (ICR)ABCC8 (select the gene name)
Probes
Litterature
PubMed213 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCC8
EVEXABCC8
GoPubMedABCC8
iHOPABCC8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:22:20 CEST 2017
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