TNNT2 Gene Summary [Human]
This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]
Details
| Type | Processed Transcript |
| Official Symbol | TNNT2 |
| Official Name | troponin T2, cardiac type [Source:HGNC Symbol;Acc:HGNC:11949] |
| Ensembl ID | ENSG00000118194 |
| Bio databases IDs | |
| Aliases | troponin T2, cardiac type |
| Synonyms | CARDIAC TROPONIN T, CMD1D, CMH2, CMPD2, cTnT, Ctt, CTTG, Fnctnt, LVNC6, RATCTTG, RCM3, Tnnt3, Tnt, TnTC, Troponin t2, cardiac, troponin T2, cardiac type |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TNNT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Troponin
- binding protein
- cytoskeletal protein binding
- Ask1 phosphorylation consensus site
- structural constituent of cytoskeleton
- actin binding
- tropomyosin binding
- protein binding activity, bridging
- microfilament motor protein
- troponin C binding
- protein binding
- identical protein binding
Pathways
Biological processes and signaling networks where the TNNT2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic kidney disease
- familial hypertrophic cardiomyopathy-2
- hypertrophic cardiomyopathy
- dilated cardiomyopathy 1d
- tachycardia
- fibrosis
- end stage renal disease
- left ventricular hypertrophy
- dilated cardiomyopathy
- pericardial effusion
role in cell
- proliferation
- expression in
- migration
- apoptosis
- binding
- activation
- calcium sensitivity
- organization
- disarray
- maximum sliding speed
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- sarcomere
- cytosol
- sarcoplasm
- myofibrils
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TNNT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of ATPase activity
- positive regulation of ATPase activity
- ventricular cardiac muscle tissue morphogenesis
- response to calcium ion
- regulation of muscle contraction
- sarcomere organization
- regulation of heart contraction
- cardiac muscle contraction
- muscle filament sliding
Cellular Component
Where in the cell the gene product is active
- striated muscle thin filament
- cytosol
- troponin complex
- sarcomere
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- troponin C binding
- troponin I binding
- tropomyosin binding