KCNJ10
Potassium Inwardly Rectifying Channel Subfamily J Member 10
Gene Information Card
| Symbol | KCNJ10 |
|---|---|
| Full Name | Potassium Inwardly Rectifying Channel Subfamily J Member 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.2 |
| NCBI Gene ID | 3766 ncbi.nlm.nih.gov/gene/3766 |
| Ensembl ID | ENSG00000177830 |
| UniProt ID | P78508 |
| OMIM ID | 602208 |
| HGNC ID | 6256 |
| Aliases | Kir4.1, KCNJ10-AS1, BIRK10, KIR4.1 |
Description
KCNJ10 encodes the Kir4.1 protein, an inwardly rectifying potassium channel that maintains potassium homeostasis in the brain, inner ear, and kidney. Mutations cause EAST/SeSAME syndrome, characterized by epilepsy, ataxia, sensorineural deafness, and tubulopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| EAST syndrome | Loss-of-function mutations reduce potassium conductance in glial cells, neurons, and renal tubules | OMIM #612780 |
| SeSAME syndrome | Same mechanism as EAST syndrome; allelic disorder | OMIM #612780 |
| Epilepsy, early-onset, with or without developmental delay | Impaired neuronal potassium buffering leads to hyperexcitability | ClinVar |
| Sensorineural deafness | Disrupted potassium recycling in the stria vascularis of the cochlea | OMIM #602208 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Inner ear | 6.7 | Low |
| Eye | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-87 MG (glioblastoma) | 15.1 | High expression |
| HEK 293 (embryonic kidney) | 9.8 | Medium expression |
| SH-SY5Y (neuroblastoma) | 7.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Thr67Ile) | Missense | Rare | Loss of function; associated with EAST syndrome |
| c.512T>C (p.Leu171Pro) | Missense | Rare | Loss of function; impaired channel trafficking |
| c.986G>A (p.Arg329His) | Missense | Rare | Dominant negative effect; reduced potassium current |
Mutation functional classification
Loss of Function (LOF)
Most KCNJ10 mutations are loss-of-function, reducing or abolishing potassium conductance, leading to EAST/SeSAME syndrome.
Gain of Function (GOF)
Not reported for KCNJ10.
Dominant Negative (DN)
Rare mutations (e.g., p.Arg329His) exert dominant-negative effects by co-assembling with wild-type subunits and impairing channel function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Potassium channels (Reactome: R-HSA-1296071)
• Inward rectifier potassium channels (KEGG: hsa04742)
• GABAergic synapse (KEGG: hsa04727)
Protein Summary
Kir4.1 is a 379-amino acid protein with two transmembrane domains (M1 and M2) and a pore-forming loop. It forms homotetramers or heterotetramers with Kir5.1 (KCNJ16). The channel is critical for potassium buffering in astrocytes, potassium secretion in renal distal tubules, and potassium recycling in the inner ear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNJ10 Knockout HEK293 Cell Line | EDJ-KQ5045 | Human | 3766 | Details Get a Quote |
| KCNJ10 Knockout HeLa Cell Line | EDJ-KQ53717 | Human | 3766 | Details Get a Quote |
| KCNJ10 Knockout A-549 Cell Line | EDJ-KQ62192 | Human | 3766 | Details Get a Quote |
| KCNJ10 Knockout HCT 116 Cell Line | EDJ-KQ70680 | Human | 3766 | Details Get a Quote |
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