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Abcb4
Gene Detail
Symbol

Name
ID
Abcb4
ATP-binding cassette, sub-family B (MDR/TAP), member 4
MGI:97569
STS
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

HCOP human homology predictions: ABCB4
Gene Tree: Abcb4

Human
homologs
ABCB4, ATP-binding cassette, sub-family B (MDR/TAP), member 4
Orthology source: HomoloGene, HGNC

IDs:
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; chr7:87402044-87477523 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human ABCB4

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Abcb4 (4)    Mutations Annotated to Human Diseases (1)   
Interactions
Abcb4 interacts with 37 markers (Mir29a, Mir139, Mir153, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (4 records)
Data Summary: Results (99)    Tissues (99)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
Northern blot 1
RT-PCR 4
cDNA source data(24)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN abcb4    NEW 
Molecular
reagents
All nucleic(37) Genomic(5) cDNA(31) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000042476 (Evidence)
Entrez Gene 18670 (Evidence)
UniGene 297825
DFCI TC1585725, TC1684699
DoTS DT.101325359, DT.101338403, DT.40158266, DT.97387414
NIA Mouse Gene Index U025901
EC 3.6.3.44
Consensus CDS Project CCDS19086.1
International Mouse Phenotyping Consortium Status Abcb4
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 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:221390 De Ponti A, et al., Chronic liver inflammation and hepatocellular carcinogenesis are independent of S100A9. Int J Cancer. 2015 May 15;136(10):2458-63
All references(120)
Disease annotation references (7)
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
06/23/2015
MGI 5.22
The Jackson Laboratory