The 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) Global Variome, with Curator vacancy
Total number of public variants reported 123
Unique public DNA variants reported 111
Individuals with public variants 91
Hidden variants 35
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 February 08, 2021
Version KCNJ11:210208

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))
HGMD KCNJ11
GeneCards KCNJ11
GeneTests KCNJ11
Orphanet KCNJ11


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010380 11 transcript variant 1 NM_000525.3 NP_000516.3 123


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