TRDN Gene - Triadin
Essential regulator of cardiac and skeletal muscle calcium handling
Gene Information Card
| Symbol | TRDN |
|---|---|
| Full Name | Triadin |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 10345 ncbi.nlm.nih.gov/gene/10345 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q13061 |
| OMIM ID | 603283 |
| HGNC ID | 12206 |
| Aliases | Trisk 95, TRISK, TDN |
Description
The TRDN gene encodes triadin, a transmembrane protein predominantly expressed in cardiac and skeletal muscle. Triadin is a component of the calcium release complex, interacting with the ryanodine receptor (RyR) and junctin to regulate calcium release from the sarcoplasmic reticulum. Mutations in TRDN are associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) and other arrhythmic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Catecholaminergic polymorphic ventricular tachycardia (CPVT) | Loss-of-function mutations in TRDN disrupt calcium homeostasis, leading to delayed afterdepolarizations and arrhythmias under stress | ClinVar, OMIM |
| Cardiac arrhythmia, ankyrin-B-related | Altered triadin expression affects calcium handling and may contribute to arrhythmia susceptibility | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.2 | Medium |
| Brain | 0.5 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 15.3 | High expression |
| Skeletal muscle myotubes | 9.8 | Moderate expression |
| HEK293 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.53_54delAG | Frameshift | Rare | Loss of function, associated with CPVT |
| p.Arg68* | Nonsense | Rare | Premature truncation, loss of function |
| p.Thr59Met | Missense | <0.01% | Altered protein stability, reduced calcium release |
Mutation functional classification
Loss of Function (LOF)
Most TRDN mutations result in loss of triadin function, impairing calcium release complex stability and leading to arrhythmias.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005509 - calcium ion binding | • GO:0016529 - sarcoplasmic reticulum |
| • GO:0042383 - sarcolemma | • GO:0030315 - T-tubule |
| • GO:0060048 - cardiac muscle contraction |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Cardiac muscle contraction (KEGG: hsa04260)
• Adrenergic signaling in cardiomyocytes (KEGG: hsa04261)
Protein Summary
Triadin is a 95 kDa transmembrane protein localized to the sarcoplasmic reticulum and T-tubules in striated muscle. It forms a quaternary complex with the ryanodine receptor (RyR2 in heart, RyR1 in skeletal muscle), junctin, and calsequestrin, modulating calcium release during excitation-contraction coupling. Triadin stabilizes the complex and regulates the open probability of RyR channels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRDN Knockout HEK293 Cell Line | EDJ-KQ1578 | Human | 10345 | Details Get a Quote |
| TRDN Knockout HeLa Cell Line | EDJ-KQ55387 | Human | 10345 | Details Get a Quote |
| TRDN Knockout A-549 Cell Line | EDJ-KQ63867 | Human | 10345 | Details Get a Quote |
| TRDN Knockout HCT 116 Cell Line | EDJ-KQ72325 | Human | 10345 | Details Get a Quote |
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