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 BRIC-2, PFIC, PFIC-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 99
Unique public DNA variants reported 76
Individuals with public variants 446
Hidden variants 4
Date created May 03, 2013
Date last updated September 17, 2021
Version ABCB11:210917

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
HGNC 42
Entrez Gene 8647
PubMed articles ABCB11
OMIM - Gene 603201
OMIM - Diseases BRIC-2 (cholestasis, intrahepatic, recurrent, benign, type 2 (BRIC-2))
PFIC-2 (cholestasis, intrahepatic, familial, progressive, type 2 (PFIC-2))
Orphanet ABCB11


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001866 2 ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742.2 NP_003733.2 99


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