ABCB4 (ATP binding cassette subfamily B member 4)

2010-01-01  

Identity

HGNC
LOCATION
7q21.12
LOCUSID
ALIAS
ABC21,GBD1,ICP3,MDR2,MDR2/3,MDR3,PFIC-3,PGY3
FUSION GENES

Other Information

Locus ID:

NCBI: 5244
MIM: 171060
HGNC: 45
Ensembl: ENSG00000005471

Variants:

dbSNP: 5244
ClinVar: 5244
TCGA: ENSG00000005471
COSMIC: ABCB4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005471ENST00000265723P21439
ENSG00000005471ENST00000358400P21439
ENSG00000005471ENST00000359206P21439
ENSG00000005471ENST00000417608E7EQI1
ENSG00000005471ENST00000440025H7C0M2
ENSG00000005471ENST00000453593P21439
ENSG00000005471ENST00000643670A0A2R8Y8A1
ENSG00000005471ENST00000644106A0A2R8Y291
ENSG00000005471ENST00000649586P21439

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10804imatinibChemicalClinicalAnnotationassociatedPD30237583
PA130620651anthracyclines and related substancesChemicalClinicalAnnotationassociatedPD21900104, 23441093
PA151958383Gastrointestinal Stromal TumorsDiseaseClinicalAnnotationassociatedPD30237583
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD21900104, 23441093

References

Pubmed IDYearTitleCitations
258072862015Large-scale whole-genome sequencing of the Icelandic population.201
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
172648022007Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.56
172648022007Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.56
150770102004Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.48
150770102004Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.48
204224962010The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.46
145279552003Farnesoid X receptor activates transcription of the phospholipid pump MDR3.36
128915482003ABCB4 gene mutation-associated cholelithiasis in adults.28
149996972004BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis.27

Citation

Dessen P

ABCB4 (ATP binding cassette subfamily B member 4)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51280/abcb4