KCNJ14
Potassium Inwardly Rectifying Channel Subfamily J Member 14
Gene Information Card
| Symbol | KCNJ14 |
|---|---|
| Full Name | Potassium Inwardly Rectifying Channel Subfamily J Member 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 3770 ncbi.nlm.nih.gov/gene/3770 |
| Ensembl ID | ENSG00000124226 |
| UniProt ID | Q9NPI9 |
| OMIM ID | 605932 |
| HGNC ID | 6281 |
| Aliases | IRK4, Kir2.4 |
Description
KCNJ14 (Potassium Inwardly Rectifying Channel Subfamily J Member 14) encodes the Kir2.4 protein, a member of the inwardly rectifying potassium channel family. Kir2.4 channels help maintain the resting membrane potential and regulate neuronal excitability. The gene is located on chromosome 19q13.33 and is primarily expressed in the brain and retina.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa | Altered potassium homeostasis in retinal cells may contribute to photoreceptor degeneration. | ClinVar; limited evidence |
| Schizophrenia | Potential dysregulation of Kir2.4 expression in brain regions linked to neuronal excitability. | NCBI Gene; association studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Retina | 8.3 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 5.2 | Neuroblastoma cell line |
| HEK293 | 2.8 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511G>A (p.Gly171Arg) | Missense | <0.01% | Unknown functional effect |
| c.724C>T (p.Arg242Cys) | Missense | <0.01% | Reported in ClinVar; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not established for KCNJ14 mutations.
Gain of Function (GOF)
Not established for KCNJ14 mutations.
Dominant Negative (DN)
Not established for KCNJ14 mutations.
View complete mutation data：
Gene Ontology (GO)
| • inward rectifier potassium channel activity | • voltage-gated potassium channel complex |
| • plasma membrane | • potassium ion transmembrane transport |
Pathways
• Potassium Channels
• Inwardly Rectifying K+ Channels
Protein Summary
The Kir2.4 protein (UniProt Q9NPI9) forms homomeric or heteromeric inwardly rectifying potassium channels. It is composed of 445 amino acids with two transmembrane domains and a pore region. Kir2.4 is involved in setting the resting membrane potential and modulating action potential firing in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNJ14 Knockout HEK293 Cell Line | EDJ-KQ5042 | Human | 3770 | Details Get a Quote |
| KCNJ14 Knockout A-549 Cell Line | EDJ-KQ27945 | Human | 3770 | Details Get a Quote |
| KCNJ14 Knockout HCT 116 Cell Line | EDJ-KQ27946 | Human | 3770 | Details Get a Quote |
| KCNJ14 Knockout HeLa Cell Line | EDJ-KQ27947 | Human | 3770 | Details Get a Quote |
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