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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed September 2014

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.

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 105,145,875 to 105,279,803

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

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 105,145,875 to base pair 105,279,803 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
  • tet oncogene family member 2

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding TET2?

blood clotting ; bone marrow ; cancer ; cell ; clotting ; fibrosis ; gene ; hematopoietic ; inherited ; 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.


  • Abdel-Wahab O, Mullally A, Hedvat C, Garcia-Manero G, Patel J, Wadleigh M, Malinge S, Yao J, Kilpivaara O, Bhat R, Huberman K, Thomas S, Dolgalev I, Heguy A, Paietta E, Le Beau MM, Beran M, Tallman MS, Ebert BL, Kantarjian HM, Stone RM, Gilliland DG, Crispino JD, Levine RL. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. Blood. 2009 Jul 2;114(1):144-7. doi: 10.1182/blood-2009-03-210039. Epub 2009 May 6. (
  • Bacher U, Haferlach C, Schnittger S, Kohlmann A, Kern W, Haferlach T. Mutations of the TET2 and CBL genes: novel molecular markers in myeloid malignancies. Ann Hematol. 2010 Jul;89(7):643-52. doi: 10.1007/s00277-010-0920-6. Epub 2010 Mar 2. Review. (
  • Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Massé A, Kosmider O, Le Couedic JP, Robert F, Alberdi A, Lécluse Y, Plo I, Dreyfus FJ, Marzac C, Casadevall N, Lacombe C, Romana SP, Dessen P, Soulier J, Viguié F, Fontenay M, Vainchenker W, Bernard OA. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009 May 28;360(22):2289-301. doi: 10.1056/NEJMoa0810069. (
  • Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M, Stevens-Linders E, van Hoogen P, van Kessel AG, Raymakers RA, Kamping EJ, Verhoef GE, Verburgh E, Hagemeijer A, Vandenberghe P, de Witte T, van der Reijden BA, Jansen JH. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet. 2009 Jul;41(7):838-42. doi: 10.1038/ng.391. Epub 2009 May 31. (
  • NCBI Gene (
  • Saint-Martin C, Leroy G, Delhommeau F, Panelatti G, Dupont S, James C, Plo I, Bordessoule D, Chomienne C, Delannoy A, Devidas A, Gardembas-Pain M, Isnard F, Plumelle Y, Bernard O, Vainchenker W, Najman A, Bellanné-Chantelot C; French Group of Familial Myeloproliferative Disorders. Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. Blood. 2009 Aug 20;114(8):1628-32. doi: 10.1182/blood-2009-01-197525. Epub 2009 Jun 29. (
  • Schaub FX, Looser R, Li S, Hao-Shen H, Lehmann T, Tichelli A, Skoda RC. Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood. 2010 Mar 11;115(10):2003-7. doi: 10.1182/blood-2009-09-245381. Epub 2010 Jan 8. (
  • Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Gangat N, Finke CM, Schwager S, Mullally A, Li CY, Hanson CA, Mesa R, Bernard O, Delhommeau F, Vainchenker W, Gilliland DG, Levine RL. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009 May;23(5):905-11. doi: 10.1038/leu.2009.47. Epub 2009 Mar 5. (
  • Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010 Jun;24(6):1128-38. doi: 10.1038/leu.2010.69. Epub 2010 Apr 29. Review. (


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: September 2014
Published: February 8, 2016