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ABCB4 (ATP binding cassette subfamily B member 4)

Identity

Alias_namesPGY3
MDR3
ATP-binding cassette
Alias_symbol (synonym)MDR2
PFIC-3
GBD1
Other aliasABC21
ICP3
MDR2/3
HGNC (Hugo) ABCB4
LocusID (NCBI) 5244
Atlas_Id 51280
Location 7q21.12  [Link to chromosome band 7q21]
Location_base_pair Starts at 87402045 and ends at 87475703 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABCC4 (13q32.1) / ABCB4 (7q21.12)ABCC4 13q32.1 / ABCB4 7q21.12

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)ABCB4   45
Cards
Entrez_Gene (NCBI)ABCB4  5244  ATP binding cassette subfamily B member 4
AliasesABC21; GBD1; ICP3; MDR2; 
MDR2/3; MDR3; PFIC-3; PGY3
GeneCards (Weizmann)ABCB4
Ensembl hg19 (Hinxton)ENSG00000005471 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000005471 [Gene_View]  chr7:87402045-87475703 [Contig_View]  ABCB4 [Vega]
ICGC DataPortalENSG00000005471
TCGA cBioPortalABCB4
AceView (NCBI)ABCB4
Genatlas (Paris)ABCB4
WikiGenes5244
SOURCE (Princeton)ABCB4
Genetics Home Reference (NIH)ABCB4
Genomic and cartography
GoldenPath hg38 (UCSC)ABCB4  -     chr7:87402045-87475703 -  7q21.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCB4  -     7q21.12   [Description]    (hg19-Feb_2009)
EnsemblABCB4 - 7q21.12 [CytoView hg19]  ABCB4 - 7q21.12 [CytoView hg38]
Mapping of homologs : NCBIABCB4 [Mapview hg19]  ABCB4 [Mapview hg38]
OMIM171060   600803   602347   614972   
Gene and transcription
Genbank (Entrez)BC020618 BC042531 M23234 X06181 Z35284
RefSeq transcript (Entrez)NM_000443 NM_018849 NM_018850
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCB4
Cluster EST : UnigeneHs.654403 [ NCBI ]
CGAP (NCI)Hs.654403
Alternative Splicing GalleryENSG00000005471
Gene ExpressionABCB4 [ NCBI-GEO ]   ABCB4 [ EBI - ARRAY_EXPRESS ]   ABCB4 [ SEEK ]   ABCB4 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCB4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5244
GTEX Portal (Tissue expression)ABCB4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21439   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21439  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21439
Splice isoforms : SwissVarP21439
Catalytic activity : Enzyme3.6.3.44 [ Enzyme-Expasy ]   3.6.3.443.6.3.44 [ IntEnz-EBI ]   3.6.3.44 [ BRENDA ]   3.6.3.44 [ KEGG ]   
PhosPhoSitePlusP21439
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    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)  
Conserved Domain (NCBI)ABCB4
DMDM Disease mutations5244
Blocks (Seattle)ABCB4
SuperfamilyP21439
Human Protein AtlasENSG00000005471
Peptide AtlasP21439
HPRD01371
IPIIPI00042932   IPI00218731   IPI00001430   IPI00925744   IPI00927655   
Protein Interaction databases
DIP (DOE-UCLA)P21439
IntAct (EBI)P21439
FunCoupENSG00000005471
BioGRIDABCB4
STRING (EMBL)ABCB4
ZODIACABCB4
Ontologies - Pathways
QuickGOP21439
Ontology : AmiGOresponse to hypoxia  placenta development  protein binding  ATP binding  phospholipid transporter activity  nucleoplasm  cytoplasm  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  lipid metabolic process  transport  drug transmembrane transport  brain development  lactation  circadian rhythm  phosphatidylcholine transporter activity  phosphatidylcholine transporter activity  xenobiotic-transporting ATPase activity  hormone transport  actin cytoskeleton  membrane  apical plasma membrane  clathrin-coated vesicle  brush border membrane  positive regulation of cholesterol transport  positive regulation of cholesterol transport  bile acid secretion  response to vitamin A  carbohydrate export  response to vitamin D  maintenance of permeability of blood-brain barrier  cellular response to mycotoxin  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase activity, coupled to transmembrane movement of substances  xenobiotic transport  daunorubicin transport  response to morphine  membrane raft  phospholipid translocation  phospholipid translocation  intercellular canaliculus  drug export  response to cadmium ion  intestinal absorption  transmembrane transport  lipid homeostasis  negative regulation of cell death  establishment of blood-brain barrier  positive regulation of phospholipid translocation  extracellular exosome  cellular response to external biotic stimulus  cellular response to antibiotic  cellular response to alkaloid  cellular response to estradiol stimulus  cellular hyperosmotic salinity response  cellular response to dexamethasone stimulus  phosphatidylcholine-translocating ATPase activity  phosphatidylcholine-translocating ATPase activity  response to thyroxine  response to antineoplastic agent  ceramide-translocating ATPase activity  ceramide translocation  response to fenofibrate  cellular response to bile acid  response to glycoside  cellular response to borneol  cellular response to L-glutamate  response to codeine  response to quercetin  response to cyclosporin A  drug transport across blood-brain barrier  establishment of blood-retinal barrier  positive regulation of response to drug  positive regulation of phospholipid transport  positive regulation of phospholipid transport  
Ontology : EGO-EBIresponse to hypoxia  placenta development  protein binding  ATP binding  phospholipid transporter activity  nucleoplasm  cytoplasm  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  lipid metabolic process  transport  drug transmembrane transport  brain development  lactation  circadian rhythm  phosphatidylcholine transporter activity  phosphatidylcholine transporter activity  xenobiotic-transporting ATPase activity  hormone transport  actin cytoskeleton  membrane  apical plasma membrane  clathrin-coated vesicle  brush border membrane  positive regulation of cholesterol transport  positive regulation of cholesterol transport  bile acid secretion  response to vitamin A  carbohydrate export  response to vitamin D  maintenance of permeability of blood-brain barrier  cellular response to mycotoxin  response to drug  ATPase activity, coupled to transmembrane movement of substances  ATPase activity, coupled to transmembrane movement of substances  xenobiotic transport  daunorubicin transport  response to morphine  membrane raft  phospholipid translocation  phospholipid translocation  intercellular canaliculus  drug export  response to cadmium ion  intestinal absorption  transmembrane transport  lipid homeostasis  negative regulation of cell death  establishment of blood-brain barrier  positive regulation of phospholipid translocation  extracellular exosome  cellular response to external biotic stimulus  cellular response to antibiotic  cellular response to alkaloid  cellular response to estradiol stimulus  cellular hyperosmotic salinity response  cellular response to dexamethasone stimulus  phosphatidylcholine-translocating ATPase activity  phosphatidylcholine-translocating ATPase activity  response to thyroxine  response to antineoplastic agent  ceramide-translocating ATPase activity  ceramide translocation  response to fenofibrate  cellular response to bile acid  response to glycoside  cellular response to borneol  cellular response to L-glutamate  response to codeine  response to quercetin  response to cyclosporin A  drug transport across blood-brain barrier  establishment of blood-retinal barrier  positive regulation of response to drug  positive regulation of phospholipid transport  positive regulation of phospholipid transport  
Pathways : BIOCARTANuclear Receptors in Lipid Metabolism and Toxicity [Genes]    Multi-Drug Resistance Factors [Genes]   
Pathways : KEGGABC transporters    Bile secretion   
NDEx NetworkABCB4
Atlas of Cancer Signalling NetworkABCB4
Wikipedia pathwaysABCB4
Orthology - Evolution
OrthoDB5244
GeneTree (enSembl)ENSG00000005471
Phylogenetic Trees/Animal Genes : TreeFamABCB4
HOVERGENP21439
HOGENOMP21439
Homologs : HomoloGeneABCB4
Homology/Alignments : Family Browser (UCSC)ABCB4
Gene fusions - Rearrangements
Fusion : MitelmanABCC4/ABCB4 [13q32.1/7q21.12]  [t(7;13)(q21;q32)]  
Fusion: TCGAABCC4 13q32.1 ABCB4 7q21.12 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCB4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCB4
dbVarABCB4
ClinVarABCB4
1000_GenomesABCB4 
Exome Variant ServerABCB4
ExAC (Exome Aggregation Consortium)ABCB4 (select the gene name)
Genetic variants : HAPMAP5244
Genomic Variants (DGV)ABCB4 [DGVbeta]
DECIPHERABCB4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCB4 
Mutations
ICGC Data PortalABCB4 
TCGA Data PortalABCB4 
Broad Tumor PortalABCB4
OASIS PortalABCB4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCB4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCB4
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 ABCB4
DgiDB (Drug Gene Interaction Database)ABCB4
DoCM (Curated mutations)ABCB4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCB4 (select a term)
intoGenABCB4
Cancer3DABCB4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM171060    600803    602347    614972   
Orphanet10932    10933    11331   
MedgenABCB4
Genetic Testing Registry ABCB4
NextProtP21439 [Medical]
TSGene5244
GENETestsABCB4
Target ValidationABCB4
Huge Navigator ABCB4 [HugePedia]
snp3D : Map Gene to Disease5244
BioCentury BCIQABCB4
ClinGenABCB4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5244
Chemical/Pharm GKB GenePA268
Clinical trialABCB4
Miscellaneous
canSAR (ICR)ABCB4 (select the gene name)
Probes
Litterature
PubMed116 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCB4
EVEXABCB4
GoPubMedABCB4
iHOPABCB4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:54:05 CEST 2017

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