The ABCB11 gene homepage

General information
Gene symbol ABCB11
Gene name ATP-binding cassette, sub-family B (MDR/TAP), member 11
Chromosome 2
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_007374.1
Transcript reference NM_003742.2
Exon/intron information NM_003742.2 exon/intron table
Associated with diseases BRIC2, PFIC, PFIC2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 109
Unique public DNA variants reported 81
Individuals with public variants 447
Hidden variants 4
Date created May 03, 2013
Date last updated November 27, 2023
Version ABCB11:231127

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_003742.2.
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
Entrez Gene 8647
PubMed articles ABCB11
OMIM - Gene 603201
OMIM - Diseases BRIC2 (cholestasis, intrahepatic, recurrent, benign, type 2 (BRIC-2))
PFIC2 (cholestasis, intrahepatic, familial, progressive, type 2 (PFIC-2))
Orphanet ABCB11

Active transcripts




NCBI ID     

NCBI Protein ID     

00001866 2 ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742.2 NP_003733.2 109

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