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ABCB11 (ATP-binding cassette, sub-family B (MDR/TAP), member 11)

Identity

Other namesABC16
BRIC2
BSEP
PFIC-2
PFIC2
PGY4
SPGP
HGNC (Hugo) ABCB11
LocusID (NCBI) 8647
Location 2q31.1
Location_base_pair Starts at 169779449 and ends at 169887833 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

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ABCB11   42
Cards
Entrez_Gene (NCBI)ABCB11  8647  ATP-binding cassette, sub-family B (MDR/TAP), member 11
GeneCards (Weizmann)ABCB11
Ensembl (Hinxton)ENSG00000073734 [Gene_View]  chr2:169779449-169887833 [Contig_View]  ABCB11 [Vega]
ICGC DataPortalENSG00000073734
AceView (NCBI)ABCB11
Genatlas (Paris)ABCB11
WikiGenes8647
SOURCE (Princeton)NM_003742
Genomic and cartography
GoldenPath (UCSC)ABCB11  -  2q31.1   chr2:169779449-169887833 -  2q31.1   [Description]    (hg19-Feb_2009)
EnsemblABCB11 - 2q31.1 [CytoView]
Mapping of homologs : NCBIABCB11 [Mapview]
OMIM601847   603201   605479   
Gene and transcription
Genbank (Entrez)AB012959 AF091582 AF136523 AK302540 AK303050
RefSeq transcript (Entrez)NM_003742
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_007374 NT_005403 NW_001838860 NW_003315909 NW_004929305
Consensus coding sequences : CCDS (NCBI)ABCB11
Cluster EST : UnigeneHs.658439 [ NCBI ]
CGAP (NCI)Hs.658439
Alternative Splicing : Fast-db (Paris)GSHG0018133
Alternative Splicing GalleryENSG00000073734
Gene ExpressionABCB11 [ NCBI-GEO ]     ABCB11 [ SEEK ]   ABCB11 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95342 (Uniprot)
NextProtO95342  [Medical]
With graphics : InterProO95342
Splice isoforms : SwissVarO95342 (Swissvar)
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    ABC_transptr_TM_dom    P-loop_NTPase   
Related proteins : CluSTrO95342
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations8647
Blocks (Seattle)O95342
Human Protein AtlasENSG00000073734
Peptide AtlasO95342
HPRD04436
IPIIPI00184848   IPI00927147   
Protein Interaction databases
DIP (DOE-UCLA)O95342
IntAct (EBI)O95342
FunCoupENSG00000073734
BioGRIDABCB11
InParanoidO95342
Interologous Interaction database O95342
IntegromeDBABCB11
STRING (EMBL)ABCB11
Ontologies - Pathways
Ontology : AmiGOtransporter activity  ATP binding  plasma membrane  integral component of plasma membrane  ATP catabolic process  bile acid biosynthetic process  transport  bile acid metabolic process  sodium-exporting ATPase activity, phosphorylative mechanism  canalicular bile acid transmembrane transporter activity  bile acid-exporting ATPase activity  bile acid and bile salt transport  canalicular bile acid transport  membrane  integral component of membrane  sodium ion transmembrane transport  ATPase activity, coupled to transmembrane movement of substances  small molecule metabolic process  apical part of cell  intercellular canaliculus  transmembrane transport  extracellular vesicular exosome  
Ontology : EGO-EBItransporter activity  ATP binding  plasma membrane  integral component of plasma membrane  ATP catabolic process  bile acid biosynthetic process  transport  bile acid metabolic process  sodium-exporting ATPase activity, phosphorylative mechanism  canalicular bile acid transmembrane transporter activity  bile acid-exporting ATPase activity  bile acid and bile salt transport  canalicular bile acid transport  membrane  integral component of membrane  sodium ion transmembrane transport  ATPase activity, coupled to transmembrane movement of substances  small molecule metabolic process  apical part of cell  intercellular canaliculus  transmembrane transport  extracellular vesicular exosome  
Pathways : BIOCARTAMulti-Drug Resistance Factors [Genes]    Nuclear Receptors in Lipid Metabolism and Toxicity [Genes]   
Pathways : KEGGABC transporters    Bile secretion   
Protein Interaction DatabaseABCB11
Wikipedia pathwaysABCB11
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ABCB11
SNP (GeneSNP Utah)ABCB11
SNP : HGBaseABCB11
Genetic variants : HAPMAPABCB11
1000_GenomesABCB11 
ICGC programENSG00000073734 
CONAN: Copy Number AnalysisABCB11 
Somatic Mutations in Cancer : COSMICABCB11 
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
Mutations and Diseases : HGMDABCB11
OMIM601847    603201    605479   
MedgenABCB11
GENETestsABCB11
Disease Genetic AssociationABCB11
Huge Navigator ABCB11 [HugePedia]  ABCB11 [HugeCancerGEM]
Genomic VariantsABCB11  ABCB11 [DGVbeta]
Exome VariantABCB11
dbVarABCB11
ClinVarABCB11
snp3D : Map Gene to Disease8647
General knowledge
Homologs : HomoloGeneABCB11
Homology/Alignments : Family Browser (UCSC)ABCB11
Phylogenetic Trees/Animal Genes : TreeFamABCB11
Chemical/Protein Interactions : CTD8647
Chemical/Pharm GKB GenePA374
Clinical trialABCB11
Cancer Resource (Charite)ENSG00000073734
Other databases
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
CoreMineABCB11
iHOPABCB11
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 : Mon Oct 13 12:29:49 CEST 2014

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