ETV6

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.

Read more about gene names and symbols on the About page.

UniProt provides the following information about the ETV6 gene's known or predicted involvement in human disease.

Note=A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML).

Note=Chromosomal aberrations involving ETV6 are found in a form of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1; translocation t(4;12)(q12;p13) with CHIC2.

Note=Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL). Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1.

Note=A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation t(9;12)(p24;p13) with JAK2.

Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6.

Note=A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6.

Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.

Defects in ETV6 are a cause of myeloproliferative disorder chronic with eosinophilia (MPE)^[1]. A hematologic disorder characterized by malignant eosinophils proliferation. Note=A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein.

Defects in ETV6 are a cause of acute myelogenous leukemia (AML)^[2]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development.

Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.

Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ETV6 gene.

• Leukemia, acute myeloid, somatic^[2]
• myeloproliverative disorder, chronic, with eosinophilia^[1]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	131440	MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
[2]	601626	LEUKEMIA, ACUTE MYELOID
	600618	ETS VARIANT GENE 6

Cytogenetic Location: 12p13

Molecular Location on chromosome 12: base pairs 11,802,787 to 12,048,335

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 11,802,787 to base pair 12,048,335 on chromosome 12.

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

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• OMIM - Genetic disorder catalog
  • MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
  • ETS VARIANT GENE 6
  • LEUKEMIA, ACUTE MYELOID
• Research Resources - Tools for researchers
  • Atlas of Genetics and Cytogenetics in Oncology and Haematology
  • Entrez Gene
  • GeneCards
  • HUGO Gene Nomenclature Committee
  • UniProt

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

acute ; acute lymphoblastic leukemia ; acute myelogenous leukemia ; acute myeloid leukemia ; AML ; chromosome ; chronic ; chronic myelomonocytic leukemia ; CMML ; congenital ; DNA ; domain ; eosinophils ; gene ; hematopoietic ; leukemia ; myelodysplastic syndrome ; myelogenous ; myeloid ; progression ; proliferation ; protein ; rearrangement ; repressor ; stage ; syndrome ; transcription ; transcription factor ; translocation ; vascular

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

See also Understanding Medical Terminology.