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Reviewed February 2013
What is the official name of the TNNT2 gene?
The official name of this gene is “troponin T type 2 (cardiac).”
TNNT2 is the gene's official symbol. The TNNT2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the TNNT2 gene?
The TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle. Cardiac troponin T is one of three proteins that make up the troponin protein complex in cardiac muscle cells. The troponin complex is part of a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres are made up of thick and thin filaments. The overlapping thick and thin filaments attach (bind) to each other and release, which allows the filaments to move relative to one another so that muscles can contract. The troponin complex, along with calcium, helps regulate contraction of cardiac muscle.
For the heart to beat normally, cardiac muscle must contract and relax in a coordinated way. Cardiac troponin T helps coordinate contraction of the heart muscle. When calcium levels are low, the troponin complex binds to the thin filament in sarcomeres, which blocks the interaction between the thick and thin filaments that is needed for muscle contraction. An increase in calcium levels causes structural changes in the troponin complex, which allows the thick and thin filaments to interact, leading to contraction of the heart muscle.
How are changes in the TNNT2 gene related to health conditions?
Genetics Home Reference provides information about familial restrictive cardiomyopathy, which is also associated with changes in the TNNT2 gene.
Where is the TNNT2 gene located?
Cytogenetic Location: 1q32
Molecular Location on chromosome 1: base pairs 201,328,141 to 201,346,804
The TNNT2 gene is located on the long (q) arm of chromosome 1 at position 32.
More precisely, the TNNT2 gene is located from base pair 201,328,141 to base pair 201,346,804 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TNNT2?
You and your healthcare professional may find the following resources about TNNT2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the TNNT2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding TNNT2?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.