KCNJ2 potassium inwardly rectifying channel subfamily J member 2
Gene ID: 3759, updated on 28-Oct-2024Gene type: protein coding
Also known as: IRK1; LQT7; SQT3; ATFB9; HHIRK1; KIR2.1; HHBIRK1
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- Go to complete Gene record for KCNJ2
- Go to Variation Viewer for KCNJ2 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, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A common variant near the KCNJ2 gene is associated with T-peak to T-end interval. GeneReviews: Not available | |
| A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. GeneReviews: Not available | |
| Andersen Tawil syndrome | See labs |
| Atrial fibrillation, familial, 9 | See labs |
| Common variants at ten loci modulate the QT interval duration in the QTSCD Study. GeneReviews: Not available | |
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genome-wide association analysis identifies six new loci associated with forced vital capacity. GeneReviews: Not available | |
| Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3. GeneReviews: Not available | |
| Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. GeneReviews: Not available | |
| Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. GeneReviews: Not available | |
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. GeneReviews: Not available | |
| Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies. GeneReviews: Not available | |
| Short QT syndrome type 3 | See labs |
Genomic context
- Location:
- 17q24.3
- Sequence:
- Chromosome: 17; NC_000017.11 (70169532..70180044)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCNJ2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KCNJ2 @ ZAC-GGM
- KCNJ2 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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