LongevityMap Gene

Gene details

HGNC symbol
KCNJ11 
Aliases
BIR; HHF2; PHHI; IKATP; TNDM3; KIR6.2; MODY13 
Common name
potassium voltage-gated channel subfamily J member 11 
Description
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
Cytogenetic Location
11p15.1
UCSC Genome Browser
View 11p15.1 on the UCSC genome browser
OMIM
600937
Ensembl
ENSG00000187486
UniProt/Swiss-Prot
B2RC52_HUMAN
Entrez Gene
3767
UniGene
248141
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
kcnj11
Mus musculus
Kcnj11
Rattus norvegicus
Kcnj11

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Dutch
Study Design
A set of alleles associated with age-related diseases was tested for association with human longevity in 723 nonagenarian siblings and 721 unrelated younger controls plus 979 singleton individuals >85 years of age and 1,167 younger controls
Conclusions
No differences were observed in disease risk allele frequency between long-lived individuals and controls. No individual allele was significantly associated with survival to old age after controlling for multiple testing.
Indentifier
rs5219
Reference