KCNE5
Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5
Gene Information Card
| Symbol | KCNE5 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 23630 ncbi.nlm.nih.gov/gene/23630 |
| Ensembl ID | ENSG00000169020 |
| UniProt ID | Q9UJ90 |
| OMIM ID | 300328 |
| HGNC ID | 6241 |
| Aliases | KCNE1L, MIRP2 |
Description
KCNE5 encodes a member of the potassium channel, voltage-gated, subfamily E regulatory subunit family. This protein is a single-transmembrane domain auxiliary subunit that modulates the gating kinetics and expression of voltage-gated potassium channels, particularly KCNQ1 (Kv7.1). KCNE5 is expressed in the heart and other tissues and plays a critical role in cardiac repolarization. Mutations in KCNE5 have been associated with long QT syndrome and atrial fibrillation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Long QT Syndrome | Loss-of-function mutations in KCNE5 impair KCNQ1 channel function, prolonging cardiac repolarization. | ClinVar, OMIM |
| Atrial Fibrillation | Altered KCNE5 expression or function may disrupt atrial action potential duration. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 8.3 | Low |
| Brain | 5.1 | Low |
| Kidney | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.0 | High expression in cardiac cells |
| HEK293 | 2.0 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.82G>A (p.Gly28Arg) | Missense | Rare | Reduced KCNQ1 current amplitude |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most KCNE5 mutations reduce KCNQ1 potassium current, leading to prolonged QT interval.
Gain of Function (GOF)
Not reported for KCNE5.
Dominant Negative (DN)
Not reported for KCNE5.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • regulation of ion transmembrane transport |
| • membrane |
Pathways
• Cardiac conduction
• Potassium channels
Protein Summary
KCNE5 is a 142-amino acid single-pass membrane protein that functions as a regulatory subunit of voltage-gated potassium channels. It modulates the KCNQ1 channel by slowing activation and shifting voltage dependence, contributing to cardiac action potential repolarization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNE5 Knockout HEK293 Cell Line | EDJ-KQ8105 | Human | 23630 | Details Get a Quote |
| KCNE5 Knockout HeLa Cell Line | EDJ-KQ33972 | Human | 23630 | Details Get a Quote |
| KCNE5 Knockout A-549 Cell Line | EDJ-KQ64283 | Human | 23630 | Details Get a Quote |
| KCNE5 Knockout HCT 116 Cell Line | EDJ-KQ72729 | Human | 23630 | Details Get a Quote |
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