KCNE2
Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2
Gene Information Card
| Symbol | KCNE2 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 9992 ncbi.nlm.nih.gov/gene/9992 |
| Ensembl ID | ENSG00000159197 |
| UniProt ID | Q9Y6J6 |
| OMIM ID | 603796 |
| HGNC ID | 6242 |
| Aliases | MIRP1, LQT5, LQT6 |
Description
KCNE2 encodes the MinK-related peptide 1 (MiRP1), a single-transmembrane protein that functions as a regulatory beta subunit for various voltage-gated potassium channels. It modulates channel gating, kinetics, and expression, particularly for the IKr current (KCNH2/Kv11.1) in cardiac myocytes. Loss-of-function mutations in KCNE2 delay cardiac repolarization and are associated with long QT syndrome (LQT6) and atrial fibrillation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Long QT Syndrome 6 (LQT6) | Loss-of-function mutations reduce IKr current, prolonging action potential duration | ClinVar, OMIM |
| Atrial Fibrillation | Gain-of-function or loss-of-function variants alter atrial repolarization | ClinVar, PubMed |
| Sudden Infant Death Syndrome (SIDS) | Rare KCNE2 variants may predispose to arrhythmia in infants | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 4.2 | Medium |
| Stomach | 3.1 | Medium |
| Small Intestine | 2.8 | Low |
| Kidney | 1.5 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 5.0 | Moderate expression |
| HEK293 | 0.2 | Low (transfected) |
| SH-SY5Y | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.25C>T (p.Arg9Cys) | Missense | <0.01% | Loss of function; associated with LQT6 |
| c.170T>C (p.Ile57Thr) | Missense | <0.01% | Loss of function; reduces IKr current |
| c.79C>T (p.Arg27Cys) | Missense | <0.01% | Gain of function; linked to atrial fibrillation |
Mutation functional classification
Loss of Function (LOF)
Most LQT6-associated mutations reduce IKr current by impairing channel trafficking or gating.
Gain of Function (GOF)
Rare variants (e.g., p.Arg27Cys) increase IKr current, predisposing to atrial fibrillation.
Dominant Negative (DN)
Not well documented for KCNE2; most mutations act via haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Adrenergic signaling in cardiomyocytes (KEGG: hsa04261)
Protein Summary
KCNE2 encodes MiRP1, a 123-amino-acid transmembrane protein with a single membrane-spanning domain. It assembles with KCNH2 (hERG) to form the IKr potassium channel, essential for cardiac repolarization. MiRP1 also modulates other channels (e.g., KCNQ1, HCN) in various tissues. Mutations disrupt channel function, leading to arrhythmia syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNE2 Knockout HEK293 Cell Line | EDJ-KQ6857 | Human | 9992 | Details Get a Quote |
| KCNE2 Knockout HeLa Cell Line | EDJ-KQ55294 | Human | 9992 | Details Get a Quote |
| KCNE2 Knockout A-549 Cell Line | EDJ-KQ63776 | Human | 9992 | Details Get a Quote |
| KCNE2 Knockout HCT 116 Cell Line | EDJ-KQ72235 | Human | 9992 | Details Get a Quote |
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