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Genetics Home Reference: your guide to understanding genetic conditions
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ETV6

Reviewed February 2013

What is the official name of the ETV6 gene?

The official name of this gene is “ets variant 6.”

ETV6 is the gene's official symbol. The ETV6 gene is also known by other names, listed below.

What is the normal function of the ETV6 gene?

The ETV6 gene provides instructions for producing a protein that functions as a transcription factor, which means that it attaches (binds) to specific regions of DNA and controls the activity of certain genes. The ETV6 protein is found in the nucleus of cells throughout the body, where it turns off (represses) gene activity. It plays a key role in development before birth and in regulating blood cell formation.

How are changes in the ETV6 gene related to health conditions?

PDGFRB-associated chronic eosinophilic leukemia - caused by mutations in the ETV6 gene

PDGFRB-associated chronic eosinophilic leukemia, a type of cancer of blood-forming cells, can be caused by a genetic rearrangement known as a translocation that brings together part of the ETV6 gene and part of another gene called PDGFRB, creating the ETV6-PDGFRB fusion gene. The translocation that leads to the ETV6-PDGFRB fusion gene is a somatic mutation, which is acquired during a person's lifetime and occurs initially in a single cell. This cell continues to grow and divide, producing a group of cells with the same mutation (a clonal population).

The protein produced from the ETV6-PDGFRB fusion gene, called ETV6/PDGFRβ, functions differently than the proteins normally produced from the individual genes. Unlike the normal PDGFRβ protein, the fusion protein is always active, which means certain cell signaling pathways are constantly turned on. The fusion protein is unable to repress gene activity regulated by the normal ETV6 protein, so gene activity is increased. The overactive signaling pathways and abnormal gene activity increase the proliferation and survival of cells. When the ETV6-PDGFRB fusion gene mutation occurs in cells that develop into blood cells, the growth of white blood cells called eosinophils (and occasionally other white blood cells, such as neutrophils and mast cells) is poorly controlled, leading to PDGFRB-associated chronic eosinophilic leukemia. It is unclear why eosinophils are preferentially affected by this genetic change.

other cancers - associated with the ETV6 gene

Translocations involving the ETV6 gene and more than 30 other genes have been found to cause different types of leukemia, including acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), and a bone marrow disease called myelodysplastic syndrome (MDS). Depending on the gene fused with ETV6, a number of mechanisms can cause these conditions, such as impaired regulation of gene activity, abnormal signaling, or loss of normal gene function. The ETV6 gene translocations that cause these diseases are somatic mutations and are not inherited.

Where is the ETV6 gene located?

Cytogenetic Location: 12p13

Molecular Location on chromosome 12: base pairs 11,649,853 to 11,895,401

The ETV6 gene is located on the short (p) arm of chromosome 12 at position 13.

The ETV6 gene is located on the short (p) arm of chromosome 12 at position 13.

More precisely, the ETV6 gene is located from base pair 11,649,853 to base pair 11,895,401 on chromosome 12.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ETV6?

You and your healthcare professional may find the following resources about ETV6 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 ETV6 gene or gene products?

  • ETS-related protein Tel1
  • ETS translocation variant 6
  • ets variant gene 6 (TEL oncogene)
  • ETV6_HUMAN
  • TEL
  • TEL1 oncogene
  • transcription factor ETV6

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ETV6?

acute ; acute lymphoblastic leukemia ; acute myeloid leukemia ; AML ; bone marrow ; cancer ; cell ; chronic ; DNA ; eosinophils ; fusion gene ; gene ; inherited ; leukemia ; mast cells ; mutation ; myelodysplastic syndrome ; myeloid ; neutrophils ; nucleus ; oncogene ; population ; proliferation ; protein ; rearrangement ; somatic mutation ; syndrome ; transcription ; transcription factor ; translocation ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: ETS VARIANT GENE 6 (http://omim.org/entry/600618)
  • Haferlach C, Bacher U, Schnittger S, Alpermann T, Zenger M, Kern W, Haferlach T. ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events. Genes Chromosomes Cancer. 2012 Apr;51(4):328-37. doi: 10.1002/gcc.21918. Epub 2011 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/22162288?dopt=Abstract)
  • Murati A, Brecqueville M, Devillier R, Mozziconacci MJ, Gelsi-Boyer V, Birnbaum D. Myeloid malignancies: mutations, models and management. BMC Cancer. 2012 Jul 23;12:304. doi: 10.1186/1471-2407-12-304. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22823977?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2120)
  • Zhou MH, Gao L, Jing Y, Xu YY, Ding Y, Wang N, Wang W, Li MY, Han XP, Sun JZ, Wang LL, Yu L. Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia. Ann Hematol. 2012 Aug;91(8):1235-43. doi: 10.1007/s00277-012-1431-4. Epub 2012 Feb 29. (http://www.ncbi.nlm.nih.gov/pubmed/22373549?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2013
Published: September 29, 2014