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TNNT2

TNNT2

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?

familial hypertrophic cardiomyopathy - caused by mutations in the TNNT2 gene

Mutations in the TNNT2 gene can cause familial hypertrophic cardiomyopathy, a condition characterized by thickening (hypertrophy) of the cardiac muscle. TNNT2 gene mutations are found in approximately 5 percent of individuals with this condition. Although some people with hypertrophic cardiomyopathy have no obvious health effects, all affected individuals have an increased risk of heart failure and sudden death.

Most TNNT2 gene mutations in familial hypertrophic cardiomyopathy change single protein building blocks (amino acids) in the cardiac troponin T protein. The altered protein is likely incorporated into the troponin complex, but it may not function properly. However, it is unclear how the gene mutations lead to the features of familial hypertrophic cardiomyopathy.

other disorders - associated with the TNNT2 gene

Mutations in the TNNT2 gene have been found in people with other heart conditions, including dilated cardiomyopathy and left ventricular noncompaction. However, the role TNNT2 gene mutations play in either disorder is unclear. Dilated cardiomyopathy is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Dilated cardiomyopathy increases the risk of heart failure and premature death. Left ventricular noncompaction occurs when the lower left chamber of the heart (left ventricle) does not develop correctly. The heart muscle is weakened and cannot pump blood efficiently, often leading to heart failure. Abnormal heart rhythms (arrhythmias) can also occur in individuals with left ventricular noncompaction.

Genetics Home Reference provides information about these additional conditions, which are also associated with changes in the TNNT2 gene:

Where is the TNNT2 gene located?

Cytogenetic Location: 1q32

Molecular Location on chromosome 1: base pairs 201,359,007 to 201,377,759

The TNNT2 gene is located on the long (q) arm of chromosome 1 at position 32.

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 201,359,007 to base pair 201,377,759 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?

  • cardiac muscle troponin T
  • cTnT
  • LVNC6
  • RCM3
  • TNNT2_HUMAN
  • TnTC
  • troponin T2, cardiac
  • troponin T, cardiac muscle

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?

acids ; calcium ; cardiac ; cardiomyopathy ; contraction ; dilated ; familial ; gene ; heart failure ; hypertrophic ; hypertrophy ; muscle cells ; protein ; sarcomere ; ventricle

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.

 
Reviewed: February 2013
Published: October 20, 2014