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Abcb4
Gene Detail
 Symbol
Name
ID
Abcb4
ATP-binding cassette, sub-family B (MDR/TAP), member 4
MGI:97569
STS D5Mit47
Synonyms mdr-2, Mdr2, Pgy2, Pgy-2
Feature Type protein coding gene
Genetic Map
Chromosome 5
3.43 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr5:8893721-8959225 bp, + strand
From Ensembl annotation of GRCm38

  65505 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:136368  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 2 chicken

Gene Tree: Abcb4

Human
homologs
Human Homolog ABCB4, ATP-binding cassette, sub-family B (MDR/TAP), member 4
NCBI Gene ID 5244
neXtProt AC  NX_P21439
Human Synonyms  ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3
Human Chr (Location)  7q21.1; chr7:87402045-87475703 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human ABCB4
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months.
 
Human Diseases Modeled Using Mouse Abcb4 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Abcb4 interacts with 37 markers (Mir29a, Mir139, Mir153, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process ATP catabolic process, transmembrane transport, ...
Component apical plasma membrane, Golgi membrane, ...
Function ATPase activity, ATPase activity, coupled to transmembrane movement of substances, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (99)    Tissues (99)    Images (2)
Theiler Stages: 2, 5, 10, 14, 22, 28
Assay TypeResults
RNA in situ 94
Northern blot 1
RT-PCR 4
cDNA source data(24)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(37) Genomic(5) cDNA(31) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000042476 (Evidence)
Entrez Gene18670 (Evidence)
UniGene297825
DFCITC1585725, TC1684699
DoTSDT.101325359, DT.101338403, DT.40158266, DT.97387414
NIA Mouse Gene IndexU025901
EC3.6.3.44
Consensus CDS ProjectCCDS19086.1
International Mouse Knockout Project StatusAbcb4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000042476 Ensembl Gene Model | MGI Sequence Detail 65505 C57BL/6J ±  kb
transcript ENSMUST00000003717 Ensembl | MGI Sequence Detail 4074 Not Applicable 
polypeptide ENSMUSP00000003717 Ensembl | MGI Sequence Detail 1276 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(10) UniProt(2)
Polymorphisms SNPs within 2kb(969 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR001140 ABC transporter, transmembrane domain
InterPro IPR011527 ABC transporter, transmembrane domain, type 1
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000031831 multidrug resistance protein 3
References (Earliest) J:8447 Gros P, et al., Mammalian multidrug resistance gene: complete cDNA sequence indicates strong homology to bacterial transport proteins. Cell. 1986 Nov 7;47(3):371-80
(Latest) J:210186 Cai SY, et al., Altered expression and function of canalicular transporters during early development of cholestatic liver injury in Abcb4-deficient mice. Am J Physiol Gastrointest Liver Physiol. 2014 Apr 15;306(8):G670-6
All references(117)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-13284, MGD-MRK-13287

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory