KCNJ11 potassium inwardly rectifying channel subfamily J member 11
Gene ID: 3767, updated on 18-Sep-2024Gene type: protein coding
Also known as: BIR; HHF2; PHHI; IKATP; PNDM2; TNDM3; KIR6.2; MODY13
- See all available tests in GTR for this gene
- Go to complete Gene record for KCNJ11
- Go to Variation Viewer for KCNJ11 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. GeneReviews: Not available | |
| Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. GeneReviews: Not available | |
| Diabetes mellitus, permanent neonatal 2 | See labs |
| Diabetes mellitus, transient neonatal, 3 | See labs |
| Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. GeneReviews: Not available | |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available | |
| Hyperinsulinemic hypoglycemia, familial, 2 | See labs |
| Maturity-onset diabetes of the young type 13 | See labs |
| Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. GeneReviews: Not available | |
| Permanent neonatal diabetes mellitus MedGen: C1833104GeneReviews: Permanent Neonatal Diabetes Mellitus | See labs |
| Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. GeneReviews: Not available | |
| Type 2 diabetes mellitus | See labs |
| Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.1
- Sequence:
- Chromosome: 11; NC_000011.10 (17385248..17389346, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCNJ11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KCNJ11 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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