Aliases for TNNT2 Gene
External Ids for TNNT2 Gene
Previous HGNC Symbols for TNNT2 Gene
Previous GeneCards Identifiers for TNNT2 Gene
The protein encoded by this gene 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. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for TNNT2 Gene
TNNT2 (Troponin T2, Cardiac Type) is a Protein Coding gene. Diseases associated with TNNT2 include Cardiomyopathy, Dilated, 1D and Cardiomyopathy, Hypertrophic, 2. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac conduction. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is TNNT1.
UniProtKB/Swiss-Prot for TNNT2 Gene
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.