TNNT2
Sign in to saveAlso known as CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT, troponin T2, cardiac type
thumb|327x327px|Cardiac sarcomere structure, featuring troponin T Cardiac muscle troponin T (cTnT) is a protein that in humans is encoded by the TNNT2 gene. Cardiac TnT 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.
Gene data
TNNT2- Name
- troponin T2, cardiac type
- Type
- protein-coding
- Position
- 201,359,002–201,379,773 (−)
- Aliases
- CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT
- Ensembl
- ENSG00000118194
- RefSeq RNA
- NM_000364.4, NM_001001430.3, NM_001001431.3, NM_001001432.3, NM_001276345.2
- RefSeq protein
- NP_000355.2, NP_001001430.1, NP_001001431.1, NP_001001432.1, NP_001263274.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
troponin T2, cardiac type
- Symbol
- TNNT2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:201,356,606-201,379,773
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein TNNT2 PDB 1j1d.png
Show 5 more facts
- HomoloGene ID
- 68050
- exact match
- identifiers.org/ncbigene/7139
- genomic end
- 201377764
- genomic start
- 201328136
- cytogenetic location
- 1q32.1
via Wikidata · CC0
~12 min read
Article
15 sectionsContents
- Structure
- Function
- Clinical significance
- Reference values
- Elevated levels after COVID-19 mRNA vaccinations
- Evolution
- Alternative splicing
- Posttranslational modifications
- Phosphorylation
- O-linked GlcNAcylation
- Proteolytic modification
- Mutations in cardiomyopathies
- Notes
- References
- External links
thumb|327x327px|Cardiac sarcomere structure, featuring troponin T Cardiac muscle troponin T (cTnT) is a protein that in humans is encoded by the TNNT2 gene. Cardiac TnT 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.
The TNNT2 gene is located at 1q32 in the human chromosomal genome, encoding the cardiac muscle isoform of troponin T (cTnT). Human cTnT is an ~36-kDa protein consisting of 297 amino acids including the first methionine with an isoelectric point (pI) of 4.88. It is the tropomyosin- binding and thin filament anchoring subunit of the troponin complex in cardiac muscle cells. TNNT2 gene is expressed in vertebrate cardiac muscles and embryonic skeletal muscles.