ABCC9 gene homepage

General information
Gene symbol ABCC9
Gene name ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Chromosome 12
Chromosomal band p12.1
Imprinted Unknown
Genomic reference LRG_377
Transcript reference NM_005691.2
Exon/intron information NM_005691.2 exon/intron table
Associated with diseases ATFB-12, Cantu, CMD-1O
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 27
Unique public DNA variants reported 18
Individuals with public variants 27
Hidden variants 0
Download all this gene's data Download all data
Notes 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 November 08, 2016
Version ABCC9:161108

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_005691.2.
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 http://www.LOVD.nl/ABCC9
HGNC 60
Entrez Gene 10060
PubMed articles ABCC9
OMIM - Gene 601439
OMIM - Diseases ATFB-12 (fibrillation, atrial, familial, type 12 (ATFB-12))
Cantu (Cantu syndrome (osteochondrodysplasia, hypertrichotic))
CMD-1O (cardiomyopathy, dilated, type 1O (CMD-1O))
HGMD ABCC9
GeneCards ABCC9
GeneTests ABCC9


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001877 12 transcript variant SUR2A NM_005691.2 NP_005682.2 27


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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.