TNNT2: Cardiac Troponin T2 - Key Regulator of Heart Muscle Contraction
Comprehensive gene card for TNNT2, encoding cardiac troponin T, with clinical significance in hypertrophic and dilated cardiomyopathies.
Gene Information Card
| Symbol | TNNT2 |
|---|---|
| Full Name | Troponin T2, Cardiac Type |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 7139 ncbi.nlm.nih.gov/gene/7139 |
| Ensembl ID | ENSG00000118194 |
| UniProt ID | P45379 |
| OMIM ID | 191045 |
| HGNC ID | 11949 |
| Aliases | CMH2, CMPD2, LVNC6, TnTc, cTnT |
Description
TNNT2 encodes the cardiac isoform of troponin T, a key component of the troponin complex that regulates calcium-mediated striated muscle contraction. Mutations in TNNT2 are associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and left ventricular noncompaction (LVNC).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic Cardiomyopathy (HCM) | Missense mutations alter calcium sensitivity and myofilament activation, leading to diastolic dysfunction and hypertrophy. | ClinVar, OMIM #115196 |
| Dilated Cardiomyopathy (DCM) | Loss-of-function mutations reduce contractile force, causing ventricular dilation and systolic dysfunction. | ClinVar, OMIM #601494 |
| Left Ventricular Noncompaction (LVNC) | Disrupted sarcomere assembly impairs myocardial compaction during development. | ClinVar, OMIM #604169 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 124.5 | High |
| Skeletal Muscle | 0.8 | Not detected |
| Liver | 0.1 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 135.2 | High expression |
| HeLa | 0.0 | No expression |
| HEK293 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.275G>A (p.Arg92Gln) | Missense | Common in HCM | Increased calcium sensitivity, hypercontractility |
| c.517C>T (p.Arg173Trp) | Missense | Rare in DCM | Reduced myofilament force generation |
| c.832C>T (p.Arg278Cys) | Missense | Found in LVNC | Disrupted sarcomere assembly |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.470delC) cause haploinsufficiency, leading to DCM.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg92Gln) increase myofilament calcium sensitivity, causing HCM.
Dominant Negative (DN)
Some missense variants (e.g., p.Lys210del) produce aberrant proteins that interfere with wild-type troponin function.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • actin binding |
| • tropomyosin binding | • muscle contraction |
| • cardiac muscle contraction | • regulation of heart contraction |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
Cardiac troponin T (cTnT) is a 34 kDa protein that anchors the troponin complex to tropomyosin on the thin filament. It mediates calcium-dependent regulation of actin-myosin interaction during cardiac systole and diastole. Post-translational modifications include phosphorylation at Ser1 and Thr2, modulating contractile sensitivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNNT2 Knockout HEK293 Cell Line | EDJ-KQ939 | Human | 7139 | Details Get a Quote |
| TNNT2 Knockout HeLa Cell Line | EDJ-KQ19919 | Human | 7139 | Details Get a Quote |
| TNNT2 Knockout A-549 Cell Line | EDJ-KQ63163 | Human | 7139 | Details Get a Quote |
| TNNT2 Knockout HCT 116 Cell Line | EDJ-KQ71637 | Human | 7139 | Details Get a Quote |
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