KCNJ10 potassium inwardly rectifying channel subfamily J member 10
Gene ID: 3766, updated on 4-Jan-2025Gene type: protein coding
Also known as: KIR1.2; KIR4.1; SESAME; BIRK-10; KCNJ13-PEN
- See all available tests in GTR for this gene
- Go to complete Gene record for KCNJ10
- Go to Variation Viewer for KCNJ10 variants
Summary
This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive nonsyndromic hearing loss 4 MedGen: C3538946OMIM: 600791GeneReviews: Genetic Hearing Loss Overview, SLC26A4-Related Sensorineural Hearing Loss | See labs |
| EAST syndrome | See labs |
| Pendred syndrome MedGen: C0271829OMIM: 274600GeneReviews: Genetic Hearing Loss Overview, SLC26A4-Related Sensorineural Hearing Loss | See labs |
Genomic context
- Location:
- 1q23.2
- Sequence:
- Chromosome: 1; NC_000001.11 (160037467..160070160, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCNJ10 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KCNJ10 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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