KCNJ15
Potassium Inwardly Rectifying Channel Subfamily J Member 15
Gene Information Card
| Symbol | KCNJ15 |
|---|---|
| Full Name | Potassium Inwardly Rectifying Channel Subfamily J Member 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.13 |
| NCBI Gene ID | 3772 ncbi.nlm.nih.gov/gene/3772 |
| Ensembl ID | ENSG00000157551 |
| UniProt ID | Q99712 |
| OMIM ID | 602106 |
| HGNC ID | 6261 |
| Aliases | Kir4.2, KCNJ14, IRK4 |
Description
KCNJ15 encodes Kir4.2, an inwardly rectifying potassium channel that regulates potassium ion homeostasis in renal and neuronal tissues. Mutations in KCNJ15 are associated with autosomal dominant hypokalemia and susceptibility to idiopathic generalized epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypokalemia, familial, 3 | Loss-of-function mutations impair potassium reabsorption in renal distal tubules | ClinVar, OMIM |
| Epilepsy, idiopathic generalized, susceptibility to | Altered neuronal excitability due to channel dysfunction | ClinVar, OMIM |
| Renal tubular acidosis, distal | Impaired acid-base balance via disrupted potassium transport | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Pancreas | 5.1 | Low |
| Liver | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| SH-SY5Y | 7.8 | Neuronal model |
| HK-2 | 11.4 | Renal proximal tubule cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.512G>A (p.Arg171His) | Missense | <0.01% | Loss of function; associated with hypokalemia |
| c.674C>T (p.Thr225Met) | Missense | <0.01% | Altered channel gating; epilepsy susceptibility |
Mutation functional classification
Loss of Function (LOF)
p.Arg171His reduces potassium conductance, leading to renal potassium wasting.
Gain of Function (GOF)
Not reported in KCNJ15.
Dominant Negative (DN)
p.Thr225Met may exert dominant-negative effects on channel assembly.
View complete mutation data：
Gene Ontology (GO)
| • Inward rectifier potassium channel activity (GO:0005242) | • Potassium ion transmembrane transport (GO:0071805) |
| • Plasma membrane (GO:0005886) |
Pathways
• Potassium channels (Reactome R-HSA-1296071)
• Ion transport by P-type ATPases (Reactome R-HSA-936837)
Protein Summary
Kir4.2 is a 418-amino acid transmembrane protein forming homotetrameric channels that mediate potassium influx in response to hyperpolarization. It is critical for renal potassium recycling and neuronal excitability modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNJ15 Knockout HEK293 Cell Line | EDJ-KQ4253 | Human | 3772 | Details Get a Quote |
| KCNJ15 Knockout HeLa Cell Line | EDJ-KQ53720 | Human | 3772 | Details Get a Quote |
| KCNJ15 Knockout A-549 Cell Line | EDJ-KQ62196 | Human | 3772 | Details Get a Quote |
| KCNJ15 Knockout HCT 116 Cell Line | EDJ-KQ70682 | Human | 3772 | Details Get a Quote |
| KCNJ15 Knockout THP-1 Cell Line | EDC90233 | Human | 3772 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
