The ABCC2 gene homepage

General information
Gene symbol ABCC2
Gene name ATP-binding cassette, sub-family C (CFTR/MRP), member 2
Chromosome 10
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_011798.1
Transcript reference NM_000392.3
Exon/intron information NM_000392.3 exon/intron table
Associated with diseases DJS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 57
Unique public DNA variants reported 43
Individuals with public variants 176
Hidden variants 3
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 September 17, 2021
Version ABCC2:210917

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_000392.3.
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 https://www.LOVD.nl/ABCC2
HGNC 53
Entrez Gene 1244
PubMed articles ABCC2
OMIM - Gene 601107
OMIM - Diseases DJS (syndrome, Dubin-Johnson (DJS))
HGMD ABCC2
GeneCards ABCC2
GeneTests ABCC2
Orphanet ABCC2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001868 10 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392.3 NP_000383.1 57


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