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Aliases & Descriptions for ABCB4
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ABC21 2 EC 3.6.3.44 3 GBD1 1 , 2 MDR2 1 , 2 MDR2/3 2 MDR3 2 , 3 , 5 OTTHUMP00000025014 2 PFIC-3 1 , 2 PGY3 2 , 3 , 5
Descriptions ATP-binding cassette sub-family B member 4 3 ATP-binding cassette, sub-family B (MDR/TAP), member 4 2 ATP-binding cassette, subfamily B, member 4 2 P glycoprotein 3/multiple drug resistance 3 2 P-glycoprotein 3 3 P-glycoprotein-3/multiple drug resistance-3 2 multidrug resistance protein 3 2 multiple drug resistance 3 2
Search outside databases for aliases for ABCB4 genePrevious GC identifers: GC07M085566 GC07M086629 GC07M086643 GC07M086676
Summaries for ABCB4 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ABCB4 : The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-bindingcassette (ABC) transporters. ABC proteins transport various molecules across extra- andintra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP,MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of theMDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This geneencodes a full transporter and member of the p-glycoprotein family of membrane proteins withphosphatidylcholine as its substrate. The function of this protein has not yet been determined;however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternativesplicing of this gene results in several products of undetermined function. [provided by RefSeq] UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439 Function : Mediates ATP-dependent export of organic anions and drugs from the cytoplasm. HydrolyzesATP with low efficiency. Human MDR3 is not capable of conferring drug resistance. Mediates thetranslocation of phosphatidylcholine across the canalicular membrane of the hepatocyte
Gene Wiki entry for ABCB4
Genomic Location for ABCB4
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ABCB4 gene Entrez Gene cytogenetic band: 7q21.1 Ensembl cytogenetic band: 7q21.12 HGNC cytogenetic band: 7q21 ABCB4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07M086869:
(about GC identifiers )
Start:
86,869,297 bp from pter
End:
86,942,991 bp from pter
Size:
73,695 bases
Orientation:
minus strand
1 alternative location : Chr 7-,CRA_TCAG 86,362,871-86,436,531
RefSeq DNA sequence: NC_000007.12 NT_007933.14 NT_079595.2 Proteins for ABCB4
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439 (See
protein sequence )Recommended Name: Multidrug resistance protein 3 Size : 1286 amino acids; 141523 Da
Subcellular location : Cell membrane; Multi-pass membrane protein
Secondary accessions : A0A2V7 Q14813Alternative splicing : 2 isoforms : P21439-1 P21439-2
REFSEQ proteins (3 alternative transcripts):
NP_000434.1 NP_061337.1 NP_061338.1 ENSEMBL proteins: ENSP00000351172 ENSP00000352135 ENSP00000265723 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for ABCB4: Assays for ABCB4:
Protein
Domains/ Families for ABCB4(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P21439 ProtoNet protein and cluster: P21439
UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439 Similarity : Belongs to the ABC transporter family. Multidrug resistance exporter (TC 3.A.1.201)subfamily Similarity : Contains 2 ABC transmembrane type-1 domainsSimilarity : Contains 2 ABC transporter domains
Gene Function for ABCB4
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_000443 Applied Biosystems Silencer ® siRNAs for ABCB4 Sigma-Aldrich siRNA and siRNA Panels for ABCB4 Sigma-Aldrich shRNA for ABCB4 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000443                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000443                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000443  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_018849 UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439 Function : Mediates ATP-dependent export of organic anions and drugs from the cytoplasm. HydrolyzesATP with low efficiency. Human MDR3 is not capable of conferring drug resistance. Mediates thetranslocation of phosphatidylcholine across the canalicular membrane of the hepatocyte Catalytic activity : ATP + H(2)O + xenobiotic(In) = ADP + phosphate + xenobiotic(Out)Enzyme Number (IUBMB): EC 3.6.3.44
Genatlas biochemistry entry for ABCB4 :ATP binding cassette superfamily,subfamily B (MDR/TAP),member 4,involved in phosphatidylcholinetranslocation into the bile
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Abcb4) :5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
About this table
Pathways & Interactions for ABCB4
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for ABCB4 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for ABCB4 5/13 Interacting proteins for ABCB4 (ENSP00000265723 3 ) via UniProtKB, MINT, and/or STRING (see all 13
)About this table 4 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for ABCB4 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ABCB4 7 Novoseek chemical compound relationships for ABCB4 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
phospholipid
67.45
28
9696021 (2), 14708891 (1), 9802889 (1), 17539998 (1) (see all 22 )
estradiol-17beta-glucuronide
63.62
1
12388190 (1)
rhodamine 123
55.21
1
8105101 (1)
cholesterol
41.74
29
11313316 (4), 16698593 (4), 17786139 (3), 11745043 (2) (see all 8 )
atp
19.76
11
19185004 (2), 15258199 (1), 19018976 (1), 17214987 (1) (see all 5 )
lipid
13.22
4
17523162 (1), 19133130 (1), 9201967 (1)
oligonucleotide
0.00
1
15258199 (1)
About this table 2 PharmGKB drug compound relationships for ABCB4 gene About this table
Transcripts for ABCB4(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_000443 Sigma-Aldrich siRNA and siRNA Panels for ABCB4 Sigma-Aldrich shRNA for ABCB4 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000443 NM_018849 NM_018850
REFSEQ mRNAs for ABCB4 gene (3 alternative transcripts): NM_000443.3 NM_018849.2 NM_018850.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000443 NM_018849 NM_018850
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000443                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000443                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000443  
Additional cDNA sequence: BC020618.2 BC042531.1 M23234.1 X06181.1 Z35284.1
8 DOTS entries : DT.91720305 DT.455047 DT.312416 DT.92417014 DT.95203605 DT.97777494 DT.99972053 DT.99987513
24 AceView cDNA sequences :M23234 X06181 BC042531 BC020618 BX282642 AI708606 AA677416 BX325245 BF796582 NM_000443 CD245608 NM_018850 BX392299 BX325244 BG618391 BV167064 NM_018849 BQ324988 Z35284 BG772586 BM918731 BF671299 AI922477 BF885506
highest scoring ESTs for ABCB4 :M23234 BC042531 BG772586 Z35284 BC020618 BE090140 BF796582 BF885506 BG618391 BQ324988
Unigene Cluster for ABCB4: ATP-binding cassette, sub-family B (MDR/TAP), member 4 Hs.654403 [show with all ESTs ] Unigene Representative Sequence: BC042531 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations : ENST00000358400
ENST00000359206
ENST00000265723
Expression for ABCB4
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ABCB4 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ABCB4 1 / 2 / 3
7 probe-sets matching ABCB4 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GCACGCATCASOURCE GeneReport for Unigene cluster: Hs.654403 Expression variation in blood from EXPOLDB for ABCB4
Orthologs for ABCB4
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ABCB4 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for ABCB4 ENSEMBL Gene Tree for ABCB4 Paralogs for ABCB4 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ABCB4 gene ABCB1 2 SNRNP35 2 ABCB11 2
SNPs/Variants for ABCB4 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ABCB4 (up to first 250kb)
Disorders & Mutations for ABCB4
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 171060 disorders : 602347 147480 600803 UniProtKB/Swiss-Prot: MDR3_HUMAN, P21439
Defects in ABCB4 are the cause of progressive familial intrahepatic cholestasis type 3(PFIC3) [MIM:602347]. PFIC3 is an autosomal recessive liver disorder presenting with early onsetcholestasis that progresses to cirrhosis and liver failure before adulthood. It is characterizedby elevated serum gamma-glutamyltransferase levels Defects in ABCB4 are a cause of intrahepatic cholestasis of pregnancy (ICP) [MIM:147480];also known as obstetric cholestasis. ICP is a multifactorial liver disorder of pregnancy. Itpresents during the second or, more commonly, the third trimestre of pregnancy with intensepruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis resultsfrom abnormal biliary transport from the liver into the small intestine. ICP causes fetaldistress, spontaneous premature delivery and intrauterine death. ICP patients have spontaneous andprogressive disappearance of cholestasis after delivery Genetic variations in ABCB4 may play a role in drug-induced cholestasis causing liverdamage Defects in ABCB4 are a cause of cholelithiasis [MIM:600803]; also known as gallstones
10/32 Novoseek disease relationships for ABCB4 gene (see all 32
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
pfic3
96.85
24
11745043 (4), 17726488 (4), 12671900 (2), 12967592 (1) (see all 9 )
cholestasis intrahepatic
92.62
47
18083082 (4), 11420418 (3), 16696816 (3), 9419367 (2) (see all 26 )
pfic2
90.41
6
16763017 (1), 17241866 (1)
byler disease
84.37
2
17241866 (1)
cholestasis
84.01
38
17264802 (3), 12381474 (3), 12206920 (3), 11420418 (2) (see all 18 )
biliary cirrhosis
71.08
5
11420418 (1), 12671900 (1), 17295178 (1), 17273143 (1)
liver diseases
64.47
3
11745043 (1), 17295178 (1), 18781607 (1)
biliary cirrhosis primary
56.68
6
14999697 (2), 9126799 (1), 17295178 (1)
cholelithiasis
49.32
10
17786139 (2), 17273143 (2), 11313316 (1), 12671900 (1) (see all 6 )
leukemia prolymphocytic
49.06
2
2323839 (2)
About this table Human Gene Mutation Database : ABCB4 Genetic Association Database: ABCB4 Human Genome Epidemiology Navigator: ABCB4 (19 documents)
Medical News for ABCB4 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ABCB4 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/166 PubMed articles for ABCB4 gene (see all 166
): Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. (PubMed id 15077010) 1, 3, 4, 6 Pauli-Magnus C.... Kullak-Ublick G.A. (2004) MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. (PubMed id 11313316) 1, 2, 3, 4 Rosmorduc O....Poupon R. (2001) ABCB4 gene mutation-associated cholelithiasis in adults. (PubMed id 12891548) 3, 4, 6 Rosmorduc O....Poupon R. (2003) The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver. (PubMed id 2892668) 2, 3, 4 van der Bliek A.M.... Borst P. (1987) BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. (PubMed id 14999697) 1, 3, 6 Pauli-Magnus C....Meier P.J. (2004) Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. (PubMed id 17264802) 1, 3, 4 Lang C.... Pauli-Magnus C. (2007) Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). (PubMed id 16763017) 1, 3, 4 Lang T.... Kerb R. (2006) Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. (PubMed id 10767346) 1, 3, 4 Dixon P.H.... Williamson C. (2000) Characterization of the promoter region of the human MDR3 P- glycoprotein gene. (PubMed id 7893760) 1, 3, 4 Smit J.J....Borst P. (1995) Structure of the human MDR3 gene and physical mapping of the human MDR locus. (PubMed id 2002063) 1, 3, 4 Lincke C.R.... Borst P. (1991)
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Genome Databases showing ABCB4
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ABCB4
(According to HUGE )
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Specialized Databases showing ABCB4 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=ABCB4 NIEHS-SNPs http://egp.gs.washington.edu/data/abcb4/
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-- Services for ABCB4 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for ABCB4:
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009