ABCC11 gene homepage

General information
Gene symbol ABCC11
Gene name ATP-binding cassette, sub-family C (CFTR/MRP), member 11
Chromosome 16
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_011522.1
Transcript reference NM_032583.3
Exon/intron information NM_032583.3 exon/intron table
Associated with diseases ear wax dry
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 116
Unique public DNA variants reported 4
Individuals with public variants 2547
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Graphical displays and utilities
Date created April 29, 2010
Date last updated January 02, 2018
Version ABCC11:180102

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_032583.3.
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
External URL Orphanet
HGNC 14639
Entrez Gene 85320
PubMed articles ABCC11
OMIM - Gene 607040
OMIM - Diseases ear wax dry (secretion, gland, apocrine, variation in (ear wax wet/dry, colostrum secretion, axillary odor))
GeneCards ABCC11
GeneTests ABCC11

Active transcripts




NCBI ID     

NCBI Protein ID     

00001879 16 transcript variant 1 NM_032583.3 NP_115972.2 116

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.