TNNT3 Gene Summary [Human]

The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]

Details

Type
Protein Coding
Official Symbol
TNNT3
Official Name
troponin T3, fast skeletal type [Source:HGNC Symbol;Acc:HGNC:11950]
Ensembl ID
ENSG00000130595
Bio databases IDs NCBI: 7140 Ensembl: ENSG00000130595
Aliases troponin T3, fast skeletal type, troponin-T3, skeletal, fast
Synonyms AMCD2B, beta-TnTF, DA2B2, FAST SKELETAL TROPONIN T3, Fast tnt, fsTnT, fTnT, Tnt, TNTF, troponin T3, fast skeletal type, Troponin t3, skeletal fast, troponin T3, skeletal, fast, β-TnTF
Species
Human, Homo sapiens
OrthologiesMouseRat

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 TNNT3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • calcium-dependent protein binding
  • Troponin
  • cytoskeletal protein binding
  • actin binding
  • tropomyosin binding
  • troponin C binding
  • heptad repeat domain

Pathways

Biological processes and signaling networks where the TNNT3 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
  • hereditary disorder
  • distal arthrogryposis type 2B2
  • breast carcinoma
  • nemaline myopathy
  • Duchenne muscular dystrophy
  • diabetic nephropathy
  • squamous-cell carcinoma
  • squamous cell cancer
  • papilloma
  • papillomatosis
regulated by
regulates
role in cell
  • isometric tension

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
  • cytosol
  • myofibrils

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TNNT3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • skeletal muscle contraction
  • regulation of ATPase activity
  • sarcomere organization
  • regulation of striated muscle contraction

Cellular Component

Where in the cell the gene product is active
  • cytosol
  • troponin complex

Molecular Function

What the gene product does at the molecular level
  • actin binding
  • troponin C binding
  • calcium-dependent protein binding
  • troponin I binding
  • tropomyosin binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.