KCNJ2 gene homepage

General information
Gene symbol KCNJ2
Gene name potassium inwardly-rectifying channel, subfamily J, member 2
Chromosome 17
Chromosomal band q24.3
Imprinted Unknown
Genomic reference LRG_328
Transcript reference NM_000891.2
Exon/intron information NM_000891.2 exon/intron table
Associated with diseases ATFB-9, SQT-3, Andersen Tawil syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 139
Unique public DNA variants reported 82
Individuals with public variants 257
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 14, 2018
Version KCNJ2:181114

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_000891.2.
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/KCNJ2
HGNC 6263
Entrez Gene 3759
PubMed articles KCNJ2
OMIM - Gene 600681
OMIM - Diseases ATFB-9 (fibrillation, atrial, familial, type 9 (ATFB-9))
SQT-3 (QT syndrome, short, type 3 (SQT-3))
Andersen Tawil syndrome
HGMD KCNJ2
GeneCards KCNJ2
GeneTests KCNJ2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010371 17 potassium inwardly-rectifying channel, subfamily J, member 2 NM_000891.2 NP_000882.1 139


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