KCNJ6 potassium inwardly rectifying channel subfamily J member 6
Gene ID: 3763, updated on 14-Nov-2024Gene type: protein coding
Also known as: BIR1; GIRK2; KATP2; KCNJ7; KPLBS; GIRK-2; KATP-2; KIR3.2; hiGIRK2
- See all available tests in GTR for this gene
- Go to complete Gene record for KCNJ6
- Go to Variation Viewer for KCNJ6 variants
Summary
This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6. GeneReviews: Not available | |
| Keppen-Lubinsky syndrome | See labs |
Genomic context
- Location:
- 21q22.13
- Sequence:
- Chromosome: 21; NC_000021.9 (37607373..37916457, 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 KCNJ6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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