KCNJ11 gene homepage

General information
Gene symbol KCNJ11
Gene name potassium inwardly-rectifying channel, subfamily J, member 11
Chromosome 11
Chromosomal band p15.1
Imprinted Unknown
Genomic reference NG_012446.1
Transcript reference NM_000525.3
Exon/intron information NM_000525.3 exon/intron table
Associated with diseases HHF2, MODY-13, NIDDM, TNDM, TNMD-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 138
Unique public DNA variants reported 131
Individuals with public variants 85
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 June 28, 2019
Version KCNJ11:190628

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_000525.3.
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/KCNJ11
HGNC 6257
Entrez Gene 3767
PubMed articles KCNJ11
OMIM - Gene 600937
OMIM - Diseases HHF2 (hypoglycemia, hyperinsulinemic, familial, type 2 (HHF-2))
MODY-13 (diabetes of the young, maturity-onset, type 13 (MODY-13))
NIDDM (diabetes mellitus, noninsulin-dependent (NIDDM))
TNMD-3 (diabetes mellitus, transient neonatal, type 3 (TNMD-3))
GeneCards KCNJ11
GeneTests KCNJ11

Active transcripts




NCBI ID     

NCBI Protein ID     

00010380 11 transcript variant 1 NM_000525.3 NP_000516.3 138

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.