Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ABCC8 (ATP-binding cassette, sub-family C (CFTR/MRP), member 8)

Identity

Other namesABC36
HHF1
HI
HRINS
MRP8
PHHI
SUR
SUR1
SUR1delta2
TNDM2
HGNC (Hugo) ABCC8
LocusID (NCBI) 6833
Location 11p15.1
Location_base_pair Starts at 17414432 and ends at 17498392 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)ABCC8   59
Cards
Entrez_Gene (NCBI)ABCC8  6833  ATP-binding cassette, sub-family C (CFTR/MRP), member 8
GeneCards (Weizmann)ABCC8
Ensembl (Hinxton)ENSG00000006071 [Gene_View]  chr11:17414432-17498392 [Contig_View]  ABCC8 [Vega]
ICGC DataPortalENSG00000006071
cBioPortalABCC8
AceView (NCBI)ABCC8
Genatlas (Paris)ABCC8
WikiGenes6833
SOURCE (Princeton)NM_000352 NM_001287174
Genomic and cartography
GoldenPath (UCSC)ABCC8  -  11p15.1   chr11:17414432-17498392 -  11p15.1   [Description]    (hg19-Feb_2009)
EnsemblABCC8 - 11p15.1 [CytoView]
Mapping of homologs : NCBIABCC8 [Mapview]
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)AC_000143 NC_000011 NC_018922 NG_008867 NT_009237 NW_001838022 NW_004929378
Consensus coding sequences : CCDS (NCBI)ABCC8
Cluster EST : UnigeneHs.54470 [ NCBI ]
CGAP (NCI)Hs.54470
Alternative Splicing GalleryENSG00000006071
Gene ExpressionABCC8 [ NCBI-GEO ]     ABCC8 [ SEEK ]   ABCC8 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ09428 (Uniprot)
NextProtQ09428  [Medical]
With graphics : InterProQ09428
Splice isoforms : SwissVarQ09428 (Swissvar)
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase [organisation]   ABC1_TM_dom [organisation]   ABC_transporter-like [organisation]   ABC_transporter_CS [organisation]   ABC_transptr_TM_dom [organisation]   P-loop_NTPase [organisation]   Sulphorea_rcpt [organisation]   Surea_rcpt-1 [organisation]  
Related proteins : CluSTrQ09428
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations6833
Blocks (Seattle)Q09428
Human Protein AtlasENSG00000006071 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ09428
HPRD02741
IPIIPI00219696   IPI00871283   IPI00980030   IPI00980638   IPI00983865   IPI00983260   IPI00979785   
Protein Interaction databases
DIP (DOE-UCLA)Q09428
IntAct (EBI)Q09428
FunCoupENSG00000006071
BioGRIDABCC8
InParanoidQ09428
Interologous Interaction database Q09428
IntegromeDBABCC8
STRING (EMBL)ABCC8
Ontologies - Pathways
Ontology : AmiGOATP binding  plasma membrane  carbohydrate metabolic process  energy reserve metabolic process  ATP catabolic process  potassium ion transport  signal transduction  signal transduction  synaptic transmission  voltage-gated potassium channel complex  sulfonylurea receptor activity  potassium ion transmembrane transporter activity  ATPase activity, coupled to transmembrane movement of substances  small molecule metabolic process  ion channel binding  regulation of insulin secretion  transmembrane transport  potassium ion transmembrane transport  
Ontology : EGO-EBIATP binding  plasma membrane  carbohydrate metabolic process  energy reserve metabolic process  ATP catabolic process  potassium ion transport  signal transduction  signal transduction  synaptic transmission  voltage-gated potassium channel complex  sulfonylurea receptor activity  potassium ion transmembrane transporter activity  ATPase activity, coupled to transmembrane movement of substances  small molecule metabolic process  ion channel binding  regulation of insulin secretion  transmembrane transport  potassium ion transmembrane transport  
Pathways : KEGGABC transporters    Insulin secretion    Type II diabetes mellitus   
Protein Interaction DatabaseABCC8
Wikipedia pathwaysABCC8
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ABCC8
snp3D : Map Gene to Disease6833
SNP (GeneSNP Utah)ABCC8
SNP : HGBaseABCC8
Genetic variants : HAPMAPABCC8
Exome VariantABCC8
1000_GenomesABCC8 
ICGC programENSG00000006071 
Somatic Mutations in Cancer : COSMICABCC8 
CONAN: Copy Number AnalysisABCC8 
Mutations and Diseases : HGMDABCC8
Genomic VariantsABCC8  ABCC8 [DGVbeta]
dbVarABCC8
ClinVarABCC8
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM125853    240800    256450    600509    606176    610374   
MedgenABCC8
GENETestsABCC8
Disease Genetic AssociationABCC8
Huge Navigator ABCC8 [HugePedia]  ABCC8 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneABCC8
Homology/Alignments : Family Browser (UCSC)ABCC8
Phylogenetic Trees/Animal Genes : TreeFamABCC8
Chemical/Protein Interactions : CTD6833
Chemical/Pharm GKB GenePA24395
Clinical trialABCC8
Cancer Resource (Charite)ENSG00000006071
Other databases
Probes
Litterature
PubMed183 Pubmed reference(s) in Entrez
CoreMineABCC8
iHOPABCC8
OncoSearchABCC8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:22:47 CEST 2014
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