ETV6
Primary Author(s)*
Brian Davis PhD
Synonyms
ETS Variant 6; TEL; THC5; TEL/ABL
Genomic Location
Cytoband: 12p13.2
Genomic Coordinates:
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chr12:11,802,788-12,048,336(GRCh37/hg19)
chr12:11,649,854-11,895,402(GRCh38/hg38)
Cancer Category/Type
chronic myelomonocytic leukemia t(5;12)(q33;p13) translocation ETV6-PDGFRB (Golub et al. (1994) translocation consisting of the 154 N terminal residues of ETV6 linked to the transmembrane and tyrosine kinase domains of the PDGFRB on chromosome 5q33.
chronic myeloproliferative disorder ETV6/PDGFRB Apperley et al. (2002)
acute lymphocytic leukemia ETV6/RUNX1 Golub et al. (1995)
16% of the childhood B-lineage acute lymphoblastic leukemia Romana et al. (1995)
Gene Overview
The ETV6 gene encodes one of 29 proteins in the ETS family of transcription factors ( "ETS" is from "E26 transformation-specific" or "E-twenty-six"). The Protein Etvs6 contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. The protein is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. (addapted form NCBI Gene description).
Transcriptional repressor; binds to the DNA sequence 5-CCGGAAGT-3. Plays a role in hematopoiesis and malignant transformation.
Common Alteration Types
ETV6 has been identified as a fusion partner in at least 30 chromosomal translocation genes [3, Atlas of Genetics and Cytogenetics in Oncology and Haematology].
ETV6/PDGFRB fusion ETV6/MN1 fusion ETV6/AML1 fusion ETV6/ARNT fusion ETV6/MDS2 fusion ETV6/ABL2 fusion ETV6/PER1 fusion ETV6/NTRK3 fusion ETV6/ACS2 fusion ETV6/BTL fusion ETV6/JAK2 fusion ETV6/RUNX1 fusion
| Copy Number Loss | Copy Number Gain | LOH | Loss-of-Function Mutation | Gain-of-Function Mutation | Translocation/Fusion |
|---|---|---|---|---|---|
| EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X |
Internal Pages
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External Links
ETV6 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
ETV6 by COSMIC - sequence information, expression, catalogue of mutations
ETV6 by St. Jude ProteinPaint mutational landscape and matched expression data.
ETV6 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
ETV6 by Cancer Index - gene, pathway, publication information matched to cancer type
ETV6 by OncoKB - mutational landscape, mutation effect, variant classification
ETV6 by My Cancer Genome - brief gene overview
ETV6 by UniProt - protein and molecular structure and function
ETV6 by Pfam - gene and protein structure and function information
ETV6 by GeneCards - general gene information and summaries
ETV6 by NCBI Gene - general gene information and summaries
ETV6 by OMIM - compendium of human genes and genetic phenotypes
ETV6 by LOVD(3) - Leiden Open Variation Database
ETV6 by TICdb - database of Translocation breakpoints In Cancer
References
1 .Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
2. Schafer, E.S. . et al. (2015). Molecular Genetics of Acute Lymphoblastic Leukemia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.
3. Hock, H. (2017). ETV6 in Hematopoiesis and Leukemia Predisposition. Semin Hematol. 54: 98-104. PMID 28637624 DOI: 10.1053/j.seminhematol.2017.04.005
Notes
*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.