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ABCB11 (ATP binding cassette subfamily B member 11)

Identity

Other namesABC16
BRIC2
BSEP
PFIC-2
PFIC2
PGY4
SPGP
HGNC (Hugo) ABCB11
LocusID (NCBI) 8647
Atlas_Id 45851
Location 2q31.1
Location_base_pair Starts at 169779449 and ends at 169887833 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABCB11 (2q31.1) / LRP2 (2q31.1)SRP14 (15q15.1) / ABCB11 (2q31.1)

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)ABCB11   42
Cards
Entrez_Gene (NCBI)ABCB11  8647  ATP binding cassette subfamily B member 11
AliasesABC16; BRIC2; BSEP; PFIC-2; 
PFIC2; PGY4; SPGP
GeneCards (Weizmann)ABCB11
Ensembl hg19 (Hinxton)ENSG00000073734 [Gene_View]  chr2:169779449-169887833 [Contig_View]  ABCB11 [Vega]
Ensembl hg38 (Hinxton)ENSG00000073734 [Gene_View]  chr2:169779449-169887833 [Contig_View]  ABCB11 [Vega]
ICGC DataPortalENSG00000073734
TCGA cBioPortalABCB11
AceView (NCBI)ABCB11
Genatlas (Paris)ABCB11
WikiGenes8647
SOURCE (Princeton)ABCB11
Genomic and cartography
GoldenPath hg19 (UCSC)ABCB11  -     chr2:169779449-169887833 -  2q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCB11  -     2q31.1   [Description]    (hg38-Dec_2013)
EnsemblABCB11 - 2q31.1 [CytoView hg19]  ABCB11 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBIABCB11 [Mapview hg19]  ABCB11 [Mapview hg38]
OMIM601847   603201   605479   
Gene and transcription
Genbank (Entrez)AB012959 AF091582 AF136523 AK302540 AK303050
RefSeq transcript (Entrez)NM_003742
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_007374 NT_005403 NW_003315909 NW_004929305
Consensus coding sequences : CCDS (NCBI)ABCB11
Cluster EST : UnigeneHs.658439 [ NCBI ]
CGAP (NCI)Hs.658439
Alternative Splicing GalleryENSG00000073734
Gene ExpressionABCB11 [ NCBI-GEO ]   ABCB11 [ EBI - ARRAY_EXPRESS ]   ABCB11 [ SEEK ]   ABCB11 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCB11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8647
GTEX Portal (Tissue expression)ABCB11
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95342 (Uniprot)
NextProtO95342  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95342
Splice isoforms : SwissVarO95342 (Swissvar)
PhosPhoSitePlusO95342
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    BSEP    P-loop_NTPase   
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)ABCB11
SuperfamilyO95342
Human Protein AtlasENSG00000073734
Peptide AtlasO95342
HPRD04436
IPIIPI00184848   IPI00927147   
Protein Interaction databases
DIP (DOE-UCLA)O95342
IntAct (EBI)O95342
FunCoupENSG00000073734
BioGRIDABCB11
STRING (EMBL)ABCB11
ZODIACABCB11
Ontologies - Pathways
QuickGOO95342
Ontology : AmiGOtransporter activity  ATP binding  plasma membrane  integral component of plasma membrane  bile acid biosynthetic process  transport  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  sodium ion transmembrane transport  apical part of cell  intercellular canaliculus  extracellular exosome  
Ontology : EGO-EBItransporter activity  ATP binding  plasma membrane  integral component of plasma membrane  bile acid biosynthetic process  transport  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  sodium ion transmembrane transport  apical part of cell  intercellular canaliculus  extracellular exosome  
Pathways : BIOCARTAMulti-Drug Resistance Factors [Genes]    Nuclear Receptors in Lipid Metabolism and Toxicity [Genes]   
Pathways : KEGGABC transporters    Bile secretion   
NDEx Network
Atlas of Cancer Signalling NetworkABCB11
Wikipedia pathwaysABCB11
Orthology - Evolution
OrthoDB8647
GeneTree (enSembl)ENSG00000073734
Phylogenetic Trees/Animal Genes : TreeFamABCB11
Homologs : HomoloGeneABCB11
Homology/Alignments : Family Browser (UCSC)ABCB11
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerABCB11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCB11
dbVarABCB11
ClinVarABCB11
1000_GenomesABCB11 
Exome Variant ServerABCB11
ExAC (Exome Aggregation Consortium)ABCB11 (select the gene name)
Genetic variants : HAPMAP8647
Genomic Variants (DGV)ABCB11 [DGVbeta]
Mutations
ICGC Data PortalABCB11 
TCGA Data PortalABCB11 
Broad Tumor PortalABCB11
OASIS PortalABCB11 [ Somatic mutations - Copy number]
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
BioMutasearch ABCB11
DgiDB (Drug Gene Interaction Database)ABCB11
DoCM (Curated mutations)ABCB11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCB11 (select a term)
intoGenABCB11
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:169779449-169887833  ENSG00000073734
CONAN: Copy Number AnalysisABCB11 
Mutations and Diseases : HGMDABCB11
OMIM601847    603201    605479   
MedgenABCB11
Genetic Testing Registry ABCB11
NextProtO95342 [Medical]
TSGene8647
GENETestsABCB11
Huge Navigator ABCB11 [HugePedia]
snp3D : Map Gene to Disease8647
BioCentury BCIQABCB11
ClinGenABCB11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8647
Chemical/Pharm GKB GenePA374
Clinical trialABCB11
Miscellaneous
canSAR (ICR)ABCB11 (select the gene name)
Probes
Litterature
PubMed110 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCB11
EVEXABCB11
GoPubMedABCB11
iHOPABCB11
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 10:52:27 CEST 2016

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