KCNJ5 gene homepage

General information
Gene symbol KCNJ5
Gene name potassium inwardly-rectifying channel, subfamily J, member 5
Chromosome 11
Chromosomal band q24
Imprinted Unknown
Genomic reference LRG_333
Transcript reference NM_000890.3
Exon/intron information NM_000890.3 exon/intron table
Associated with diseases APA, HALD-3, LQT-13
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 57
Unique public DNA variants reported 38
Individuals with public variants 81
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated July 01, 2020
Version KCNJ5:200701

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_000890.3.
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 http://www.LOVD.nl/KCNJ5
External URL Orphanet
HGNC 6266
Entrez Gene 3762
PubMed articles KCNJ5
OMIM - Gene 600734
OMIM - Diseases HALD-3 (FH-3)
LQT-13 (QT syndrome, long, type 13 (LQT-13))
GeneCards KCNJ5
GeneTests KCNJ5

Active transcripts




NCBI ID     

NCBI Protein ID     

00010375 11 potassium inwardly-rectifying channel, subfamily J, member 5 NM_000890.3 NP_000881.3 57

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