KCNJ11
LOCUS ID3767
GENE_SYMBOLKCNJ11
GENE NAMEpotassium voltage-gated channel subfamily J member 11
SYNONYMNSBIR, HHF2, PHHI, IKATP, TNDM3, KIR6.2, MODY13
CHROMOSOME11
HOMOLOGENE ID441
microRNAsNANA
GENE SUMMARY
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]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. The A allele frequency of rs5219 was significantly higher in DR patients than that in the patients without DR (49.01% versus 38.68%, P <0.05). We found the minor A allele could increase the risk to develop DR (ORint=1.58, 95% CI1.139 to 2. 192 for allele and P=0.006, ORint=1.607, 95% CI1.267 to 2. 038 for genotype and P <0.001) in the Chinese Han population.Our findings provided evidence that KCNJ11 was associated with DR in Chinese Han patients with T2DM.25573672
Neuropathy1. In conclusion , the clinical features in these patients support the existence of a discrete neurological syndrome with KCNJ11 mutations. The severe DEND syndrome was seen with the novel C166F mutation and mild developmental delay with the V59M mutation. These features differ markedly from the neurological consequences of acute or chronic diabetes. 2. In conclusion, the current study shows that rs5219 at?KCNJ11?(E23K) is significantly associated with peripheral nerve function as evaluated by NCS in a Chinese population with type 2 diabetes mellitus. The present findings suggest shared genetic factors for type 2 diabetes mellitus and DPN in this population.16670688, 27253191