RNF207: Ring Finger Protein 207
A cardiac-enriched E3 ubiquitin ligase implicated in QT interval regulation and arrhythmia susceptibility
Gene Information Card
| Symbol | RNF207 |
|---|---|
| Full Name | Ring Finger Protein 207 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 388591 ncbi.nlm.nih.gov/gene/388591 |
| Ensembl ID | ENSG00000158286 |
| UniProt ID | Q6ZRH7 |
| OMIM ID | 612263 |
| HGNC ID | 26776 |
| Aliases | FLJ33655, MGC131914 |
Description
RNF207 encodes a ring finger protein that functions as an E3 ubiquitin ligase. It is predominantly expressed in the heart and plays a critical role in cardiac repolarization by modulating the trafficking and function of potassium channels, particularly the hERG (KCNH2) channel. Genetic variants in RNF207 have been associated with QT interval prolongation and increased risk of ventricular arrhythmias and sudden cardiac death.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Long QT syndrome | Loss-of-function variants impair hERG channel trafficking, prolonging cardiac repolarization | ClinVar, OMIM |
| Sudden cardiac death | RNF207 variants contribute to arrhythmia susceptibility in the general population | NCBI Gene, PubMed |
| Atrial fibrillation | Rare variants may alter ion channel regulation, though evidence is limited | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 42.3 | High |
| Skeletal muscle | 8.1 | Low |
| Brain | 3.5 | Low |
| Liver | 1.2 | Not detected |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 55.0 | High expression |
| HEK293 | 0.8 | Low expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121C>T (p.Arg41Cys) | Missense | Rare | Impaired hERG trafficking, reduced current density |
| c.454G>A (p.Glu152Lys) | Missense | Rare | Altered ubiquitination activity |
| c.1039C>T (p.Arg347Trp) | Missense | Rare | Loss of function, associated with QT prolongation |
Mutation functional classification
Loss of Function (LOF)
Most reported missense variants reduce E3 ligase activity and impair hERG channel surface expression.
Gain of Function (GOF)
Not described in literature.
Dominant Negative (DN)
Not reported; likely haploinsufficiency mechanism.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04261 - Adrenergic signaling in cardiomyocytes
• hsa05414 - Dilated cardiomyopathy
• hsa05412 - Arrhythmogenic right ventricular cardiomyopathy
Protein Summary
RNF207 is a 664-amino acid protein containing a RING finger domain characteristic of E3 ubiquitin ligases. It localizes to the cytoplasm and plasma membrane of cardiomyocytes. Through ubiquitination, RNF207 regulates the stability and trafficking of the hERG potassium channel, thereby influencing cardiac action potential duration. Loss-of-function mutations lead to reduced hERG current and prolonged QT interval, predisposing to arrhythmias.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF207 Knockout HEK293 Cell Line | EDJ-KQ15106 | Human | 388591 | Details Get a Quote |
| RNF207 Knockout A-549 Cell Line | EDJ-KQ45690 | Human | 388591 | Details Get a Quote |
| RNF207 Knockout HCT 116 Cell Line | EDJ-KQ45691 | Human | 388591 | Details Get a Quote |
| RNF207 Knockout HeLa Cell Line | EDJ-KQ45692 | Human | 388591 | Details Get a Quote |
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