The ABCB4 gene homepage

General information
Gene symbol ABCB4
Gene name ATP-binding cassette, sub-family B (MDR/TAP), member 4
Chromosome 7
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_007118.1
Transcript reference NM_018849.2
Exon/intron information NM_018849.2 exon/intron table
Associated with diseases GBD-1, ICP-3, PFIC, PFIC-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Emanouil Sigalas
Total number of public variants reported 71
Unique public DNA variants reported 54
Individuals with public variants 80
Hidden variants 2
Download all this gene's data Download all data
Notes Alias: MDR3, PGY3
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated February 08, 2021
Version ABCB4:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_018849.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
Entrez Gene 5244
PubMed articles ABCB4
OMIM - Gene 171060
OMIM - Diseases GBD-1 (LPAC)
ICP-3 (cholestasis, intrahepatic, of pregnancy, type 3 (ICP-3))
PFIC-3 (cholestasis, intrahepatic, familial, progressive, type 3 (PFIC-3))
GeneCards ABCB4
GeneTests ABCB4
Orphanet ABCB4

Active transcripts




NCBI ID     

NCBI Protein ID     

00024077 7 transcript variant B NM_018849.2 NP_061337.1 71

Copyright & disclaimer
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