The 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 ATFB12, Cantu, CMD1O, IDMYS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 448
Unique public DNA variants reported 255
Individuals with public variants 104
Hidden variants 32
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 27, 2023
Version ABCC9:231127

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_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
Entrez Gene 10060
PubMed articles ABCC9
OMIM - Gene 601439
OMIM - Diseases ATFB12 (fibrillation, atrial, familial, type 12)
Cantu (osteochondrodysplasia, hypertrichotic (Cantu syndrome))
CMD1O (cardiomyopathy, dilated, type 1O)
IDMYS (intellectual disability and myopathy syndrome)
GeneCards ABCC9
GeneTests ABCC9
Orphanet ABCC9

Active transcripts




NCBI ID     

NCBI Protein ID     

00001877 12 transcript variant SUR2A NM_005691.2 NP_005682.2 448

Copyright & disclaimer
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