View 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
Associated with diseases FH-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 5
Unique public DNA variants reported 5
Individuals with public variants 12
Hidden variants 0
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 April 29, 2016
Version KCNJ5:160429

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 FH-3 (hyperaldosteronism, familial, type III (FH-3))
LQT-13 (QT syndrome, long, type 13 (LQT-13))
HGMD KCNJ5
GeneCards KCNJ5
GeneTests KCNJ5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

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


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