KCNJ10
Chr 1ARpotassium inwardly rectifying channel subfamily J member 10
Also known as: BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME
The protein functions as an inwardly rectifying potassium channel that contributes to potassium buffering by glial cells in the brain. Biallelic mutations cause SESAME syndrome (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) and can contribute to enlarged vestibular aqueduct in a digenic pattern, both inherited in an autosomal recessive manner. The pathogenic mechanism appears to involve loss of normal channel function, disrupting potassium homeostasis in neural and other tissues.
Disputed — evidence questions this relationship
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KCNJ10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools