KCNE4
Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4
Gene Information Card
| Symbol | KCNE4 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q36.1 |
| NCBI Gene ID | 23704 ncbi.nlm.nih.gov/gene/23704 |
| Ensembl ID | ENSG00000152049 |
| UniProt ID | Q9Y6H6 |
| OMIM ID | 607745 |
| HGNC ID | 6243 |
| Aliases | MIRP3 |
Description
KCNE4 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4) encodes a member of the potassium channel KCNE family, which functions as a regulatory subunit modulating the gating kinetics and voltage dependence of voltage-gated potassium channels (Kv). The encoded protein, also known as MIRP3, associates with Kv4 channels to influence cardiac repolarization and neuronal excitability. Variants in KCNE4 have been implicated in cardiac arrhythmia syndromes, including long QT syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Long QT Syndrome | Altered potassium channel function due to KCNE4 variants may prolong cardiac repolarization | ClinVar, OMIM |
| Atrial Fibrillation | Modulation of Kv4.3 channels by KCNE4 may contribute to atrial electrical remodeling | NCBI, PubMed |
| Sudden Cardiac Death | Loss-of-function mutations in KCNE4 can predispose to arrhythmogenic events | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Skeletal Muscle | 6.1 | Low |
| Kidney | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.2 | Moderate expression |
| HEK293 | 0.8 | Low expression |
| SH-SY5Y | 5.6 | Detectable |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238G>A (p.Glu80Lys) | Missense | <0.01% | Reduced current density in Kv4.3 channels |
| c.145C>T (p.Arg49Trp) | Missense | <0.01% | Altered channel inactivation kinetics |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
p.Met1Val and p.Glu80Lys reduce or abolish KCNE4-mediated modulation of Kv4.3 currents.
Gain of Function (GOF)
No gain-of-function mutations reported in KCNE4.
Dominant Negative (DN)
p.Arg49Trp may exert dominant-negative effects on wild-type KCNE4 function.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • potassium ion transmembrane transport |
| • regulation of heart contraction | • membrane |
| • protein heterodimerization activity |
Pathways
• Cardiac conduction
• Potassium channels
• Long QT syndrome
Protein Summary
KCNE4 (MIRP3) is a 170-amino-acid single-transmembrane protein that acts as a regulatory beta subunit for voltage-gated potassium channels, particularly Kv4.x (KCND) channels. It modulates channel inactivation kinetics and voltage dependence, playing a critical role in cardiac action potential repolarization and neuronal excitability. The protein is predominantly expressed in heart and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNE4 Knockout HEK293 Cell Line | EDJ-KQ8120 | Human | 23704 | Details Get a Quote |
| KCNE4 Knockout HeLa Cell Line | EDJ-KQ55795 | Human | 23704 | Details Get a Quote |
| KCNE4 Knockout A-549 Cell Line | EDJ-KQ64292 | Human | 23704 | Details Get a Quote |
| KCNE4 Knockout HCT 116 Cell Line | EDJ-KQ72739 | Human | 23704 | Details Get a Quote |
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