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TET2

TET2

Reviewed December 2011

What is the official name of the TET2 gene?

The official name of this gene is “tet methylcytosine dioxygenase 2.”

TET2 is the gene's official symbol. The TET2 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 TET2 gene?

The TET2 gene provides instructions for making a protein whose function is unknown. Based on the function of similar proteins, researchers believe the TET2 protein is involved in regulating the process of transcription, which is the first step in protein production. Although this protein is found throughout the body, it may play a particularly important role in the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets. The TET2 protein appears to act as a tumor suppressor, which is a protein that prevents cells from growing and dividing in an uncontrolled way.

How are changes in the TET2 gene related to health conditions?

essential thrombocythemia - associated with the TET2 gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the TET2 gene have been identified in a small number of people with essential thrombocythemia, which is a condition characterized by high numbers of platelets in the blood. Platelets are the blood cells involved in blood clotting.

TET2 gene mutations alter the TET2 protein in different ways; however, all of them appear to result in a nonfunctional protein. The role these mutations play in the development of essential thrombocythemia is unknown.

polycythemia vera - associated with the TET2 gene

Somatic mutations in the TET2 gene are associated with polycythemia vera, a disorder characterized by uncontrolled blood cell production. These mutations are thought to result in a nonfunctional protein. Mutations in this gene have been found in approximately 16 percent of people with polycythemia vera. It is unclear what role these mutations play in the development of polycythemia vera.

primary myelofibrosis - associated with the TET2 gene

Somatic mutations in the TET2 gene are associated with primary myelofibrosis. This condition is characterized by scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. It is unclear what role the TET2 gene mutations play in the development of primary myelofibrosis.

other disorders - associated with the TET2 gene

Somatic TET2 gene mutations are also associated with certain types of cancer of blood-forming cells (leukemia) and a disease of the blood and bone marrow called myelodysplastic syndrome. These mutations are thought to result in a nonfunctional TET2 protein. A loss of TET2 protein in hematopoietic stem cells may lead to uncontrolled growth and division of these cells. Researchers are working to determine exactly what role TET2 gene mutations play in the development of bone marrow disorders.

Where is the TET2 gene located?

Cytogenetic Location: 4q24

Molecular Location on chromosome 4: base pairs 105,145,874 to 105,279,802

The TET2 gene is located on the long (q) arm of chromosome 4 at position 24.

The TET2 gene is located on the long (q) arm of chromosome 4 at position 24.

More precisely, the TET2 gene is located from base pair 105,145,874 to base pair 105,279,802 on chromosome 4.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TET2?

You and your healthcare professional may find the following resources about TET2 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 TET2 gene or gene products?

  • FLJ20032
  • KIAA1546
  • MGC125715
  • probable methylcytosine dioxygenase TET2
  • probable methylcytosine dioxygenase TET2 isoform a
  • probable methylcytosine dioxygenase TET2 isoform b
  • TET2_HUMAN
  • tet oncogene family member 2

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 TET2?

blood clotting ; bone marrow ; cancer ; cell ; clotting ; fibrosis ; gene ; hematopoietic ; leukemia ; myelodysplastic syndrome ; oncogene ; platelets ; protein ; stem cells ; syndrome ; tissue ; transcription ; tumor ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 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: December 2011
Published: April 17, 2014