KCNK12
Potassium Two Pore Domain Channel Subfamily K Member 12
Gene Information Card
| Symbol | KCNK12 |
|---|---|
| Full Name | Potassium Two Pore Domain Channel Subfamily K Member 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p16.3 |
| NCBI Gene ID | 56660 ncbi.nlm.nih.gov/gene/56660 |
| Ensembl ID | ENSG00000184277 |
| UniProt ID | Q9HB15 |
| OMIM ID | 607366 |
| HGNC ID | 6278 |
| Aliases | THIK-2, K2p12.1 |
Description
KCNK12 encodes a member of the two-pore-domain potassium channel family, specifically the tandem pore domain halothane-inhibited potassium channel 2 (THIK-2). The protein forms a potassium-selective channel that is weakly inward rectifying and is inhibited by halothane. It is involved in the regulation of resting membrane potential and neuronal excitability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, familial focal, with variable foci | Loss-of-function mutations in KCNK12 may alter neuronal potassium conductance, leading to hyperexcitability | ClinVar |
| Developmental and epileptic encephalopathy | De novo missense variants impair channel function, contributing to seizure disorders | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 2.1 | Low |
| Kidney | 1.8 | Low |
| Lung | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.4 | Moderate expression |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
| U-87 MG (glioblastoma) | 2.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.499G>A (p.Gly167Arg) | Missense | Rare | Loss of function; reduced potassium current |
| c.682C>T (p.Arg228Trp) | Missense | Rare | Loss of function; associated with epilepsy |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly167Arg, p.Arg228Trp) reduce or abolish channel activity, leading to neuronal hyperexcitability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established for KCNK12.
View complete mutation data：
Gene Ontology (GO)
| • potassium ion transmembrane transport | • potassium channel activity |
| • voltage-gated potassium channel complex | • plasma membrane |
Pathways
• Potassium channels
• Ion transport by P-type ATPases
Protein Summary
KCNK12 encodes the THIK-2 protein, a two-pore domain potassium channel that contributes to background potassium conductance. The channel is inhibited by halothane and is predominantly expressed in the brain. Mutations in KCNK12 are associated with epilepsy syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNK12 Knockout HEK293 Cell Line | EDJ-KQ13894 | Human | 56660 | Details Get a Quote |
| KCNK12 Knockout HeLa Cell Line | EDJ-KQ56747 | Human | 56660 | Details Get a Quote |
| KCNK12 Knockout A-549 Cell Line | EDJ-KQ65251 | Human | 56660 | Details Get a Quote |
| KCNK12 Knockout HCT 116 Cell Line | EDJ-KQ73691 | Human | 56660 | Details Get a Quote |
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