TRDN - triadin Gene
Also Known as TDN; CPVT5; TRISK; CARDAR
Species: Homo sapiens
About TRDN
This gene has 7 transcripts (splice variants), 209 orthologues and is associated with 6 phenotypes. Biased expression in heart (RPKM 24.6), prostate (RPKM 6.0) and 2 other tissues.
Summary
This gene encodes an integral membrane protein found in skeletal and cardiac muscle. The encoded protein plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex and is required for normal skeletal muscle strength. This protein indirectly links triads and microtubules in skeletal muscle. Mutations in this gene are associated with cardiac arrythmia syndrome and some variants in this gene may be associated with sudden cardiac death. [provided by RefSeq, May 2022]
TRDN Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001251987.2 | NP_001238916.1 | triadin isoform 2 |
| NM_001256020.2 | NP_001242949.1 | triadin isoform 3 |
| NM_001256021.2 | NP_001242950.1 | triadin isoform 4 |
| NM_001256022.2 | NP_001242951.1 | triadin isoform 5 |
| NM_001407315.1 | NP_001394244.1 | triadin isoform 6 |
| NM_006073.4 | NP_006064.2 | triadin isoform 1 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17526652 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in heart contraction |
IMP
IMP: Inferred from mutant phenotype
|
22422768 | GOA |
TRDN Protein Structure
Asp-B-Hydro_N: Aspartyl beta-hydroxylase N-terminal region (49 - 263)
- 0
- 200
- 400
- 600
- 721 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
triadin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia 5 |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
| Long Qt Syndrome 1 |
|
|
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
|
| Cardiac Arrest |
|
|
| Schizophrenia 11 |
|
|
| Long Qt Syndrome 14 |
|
|
| Schizophrenia 6 |
|
|
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
|
| Long Qt Syndrome 15 |
|
|
| Multiminicore Disease |
|
|
| King-Denborough Syndrome |
|
|
| Central Core Disease Of Muscle |
|
|
| Long Qt Syndrome |
|
|
| Rhabdomyolysis-Myalgia Syndrome |
|
|
| Schizophrenia 10 |
|
|
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
|
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
|
| Long Qt Syndrome 2 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
|
| Timothy Syndrome |
|
|
| Long Qt Syndrome 3 |
|
|
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
|
| Congenital Structural Myopathy |
|
|
| Long Qt Syndrome 9 |
|
|
| Malignant Hyperthermia |
|
|
| Heart Conduction Disease |
|
|
| Jervell And Lange-Nielsen Syndrome 1 |
|
|
| Congenital Fiber-Type Disproportion |
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
|
| Heart Disease |
|
|
| Brugada Syndrome |
|
|
| Left Ventricular Noncompaction |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|