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
- Caenorhabditis elegans
- irk-1
- Caenorhabditis elegans
- irk-2
- Danio rerio
- KCNJ11 (1 of many)
- Danio rerio
- kcnj11l
- Drosophila melanogaster
- Irk2
- Drosophila melanogaster
- Irk1
- Mus musculus
- Kcnj11
- Rattus norvegicus
- Kcnj11
In other databases
- GenAge microarray genes
- This gene is present as 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