Identity
HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
CMD1D,CMH2,CMPD2,LVNC6,RCM3,TnTC,cTnT
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7139
MIM: 191045
HGNC: 11949
Ensembl: ENSG00000118194
Variants:
dbSNP: 7139
ClinVar: 7139
TCGA: ENSG00000118194
COSMIC: TNNT2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162375571 | ACTC1 | Gene | DataAnnotation | associated | |||
| PA231 | LMNA | Gene | DataAnnotation | associated | |||
| PA28707 | GLA | Gene | DataAnnotation | associated | |||
| PA31351 | MYBPC3 | Gene | DataAnnotation | associated | |||
| PA31374 | MYH7 | Gene | DataAnnotation | associated | |||
| PA31380 | MYL2 | Gene | DataAnnotation | associated | |||
| PA31381 | MYL3 | Gene | DataAnnotation | associated | |||
| PA33752 | PRKAG2 | Gene | DataAnnotation | associated | |||
| PA36636 | TNNI3 | Gene | DataAnnotation | associated | |||
| PA36690 | TPM1 | Gene | DataAnnotation | associated | |||
| PA443632 | Cardiomyopathy, Dilated | Disease | DataAnnotation | associated | |||
| PA443633 | Cardiomyopathy, Hypertrophic | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37252999 | 2023 | Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function. | 4 |
| 37252999 | 2023 | Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function. | 4 |
| 33884582 | 2022 | Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy. | 6 |
| 34686997 | 2022 | Evaluation of Cardiac Troponin and Adverse Outcomes After Aneurysmal Subarachnoid Hemorrhage: A Systematic Review and Meta-Analysis. | 2 |
| 34998858 | 2022 | The ratio of cardiac troponin T to troponin I may indicate non-necrotic troponin release among COVID-19 patients. | 6 |
| 35067102 | 2022 | Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T. | 0 |
| 35926901 | 2022 | Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results. | 12 |
| 36318533 | 2022 | Diagnostic and prognostic performance of the ratio between high-sensitivity cardiac troponin I and troponin T in patients with chest pain. | 1 |
| 36368163 | 2022 | Cardiac troponin T as a postmortem biomarker for acute myocardial infarction. | 1 |
| 36613463 | 2022 | De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy. | 5 |
| 33884582 | 2022 | Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy. | 6 |
| 34686997 | 2022 | Evaluation of Cardiac Troponin and Adverse Outcomes After Aneurysmal Subarachnoid Hemorrhage: A Systematic Review and Meta-Analysis. | 2 |
| 34998858 | 2022 | The ratio of cardiac troponin T to troponin I may indicate non-necrotic troponin release among COVID-19 patients. | 6 |
| 35067102 | 2022 | Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T. | 0 |
| 35926901 | 2022 | Coronary Atherosclerosis, Cardiac Troponin, and Interleukin-6 in Patients With Chest Pain: The PROMISE Trial Results. | 12 |
Citation
Dessen P
TNNT2 (troponin T2, cardiac type)
Atlas Genet Cytogenet Oncol Haematol. 2009-02-01
Online version: http://atlasgeneticsoncology.org/gene/50664/tnnt2
