ETV6

ETV6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1JI7, 1LKY, 2DAO, 2QAR, 2QB0, 2QB1
Identifiers
Aliases	ETV6, TEL, TEL/ABL, THC5, ETS variant 6
External IDs	OMIM: 600618 MGI: 109336 HomoloGene: 37560 GeneCards: ETV6
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • RNA polymerase II transcription factor activity, sequence-specific DNA binding • DNA binding • sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • RNA polymerase II regulatory region sequence-specific DNA binding • protein binding • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding • protein domain specific binding Cellular component • cytoplasm • nucleolus • nucleus Biological process • hematopoietic stem cell proliferation • cell differentiation • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • vitellogenesis • mesenchymal cell apoptotic process • neurogenesis Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2120	14011
Ensembl	ENSG00000139083	ENSMUSG00000030199
UniProt	P41212	P97360
RefSeq (mRNA)	NM_001987	NM_007961 NM_001303102
RefSeq (protein)	NP_001978.1	NP_031987.3
Location (UCSC)	Chr 12: 11.65 – 11.9 Mb	Chr 6: 134.04 – 134.27 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

Transcription factor ETV6 is a protein that in humans is encoded by the ETV6 gene. ETV6 is an oncogene.

Function

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in the protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it 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, congenital fibrosarcoma and more recently an unusual salivary tumor that has been termed "mammary analogue secretory carcinoma of salivary glands."^[3][4]

Interactions

ETV6 has been shown to interact with Grb2,^[5] FLI1^[6] and HTATIP.^[7] It can form a fusion gene with ABL1 called ETV6/ABL1 (or TEL/ABL under the previous gene names).

Mouse Mutant Alleles for Etv6
Marker Symbol for Mouse Gene. This symbol is assigned to the genomic locus by the MGI	Etv6
Mutant Mouse Embryonic Stem Cell Clones. These are the known targeted mutations for this gene in a mouse.	Etv6^tm1a(KOMP)Wtsi
Example structure of targeted conditional mutant allele for this gene
These Mutant ES Cells can be studied directly or used to generate mice with this gene knocked out. Study of these mice can shed light on the function of Etv6: see Knockout mouse

See also

• TEL-JAK2

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "Entrez Gene: ETV6 ets variant gene 6 (TEL oncogene)".
4. Chiosea SI, Griffith C, Assaad A, Seethala RR (Sep 2012). "Clinicopathological characterization of mammary analogue secretory carcinoma of salivary glands". Histopathology. 61 (3): 387–94. doi:10.1111/j.1365-2559.2012.04232.x. PMID 22372712.
5. Million RP, Harakawa N, Roumiantsev S, Varticovski L, Van Etten RA (Jun 2004). "A direct binding site for Grb2 contributes to transformation and leukemogenesis by the Tel-Abl (ETV6-Abl) tyrosine kinase". Molecular and Cellular Biology. 24 (11): 4685–95. doi:10.1128/MCB.24.11.4685-4695.2004. PMC 416425. PMID 15143164.
6. Kwiatkowski BA, Bastian LS, Bauer TR, Tsai S, Zielinska-Kwiatkowska AG, Hickstein DD (Jul 1998). "The ets family member Tel binds to the Fli-1 oncoprotein and inhibits its transcriptional activity". The Journal of Biological Chemistry. 273 (28): 17525–30. doi:10.1074/jbc.273.28.17525. PMID 9651344.
7. Nordentoft I, Jørgensen P (Aug 2003). "The acetyltransferase 60 kDa trans-acting regulatory protein of HIV type 1-interacting protein (Tip60) interacts with the translocation E26 transforming-specific leukaemia gene (TEL) and functions as a transcriptional co-repressor". The Biochemical Journal. 374 (Pt 1): 165–73. doi:10.1042/BJ20030087. PMC 1223570. PMID 12737628.

Further reading

• Keung YK, Beaty M, Steward W, Jackle B, Pettnati M (Oct 2002). "Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature". Cancer Genetics and Cytogenetics. 138 (2): 139–42. doi:10.1016/S0165-4608(02)00609-X. PMID 12505259.
• Fainstein E, Einat M, Gokkel E, Marcelle C, Croce CM, Gale RP, Canaani E (Dec 1989). "Nucleotide sequence analysis of human abl and bcr-abl cDNAs". Oncogene. 4 (12): 1477–81. PMID 2687768.
• Buijs A, Sherr S, van Baal S, van Bezouw S, van der Plas D, Geurts van Kessel A, Riegman P, Lekanne Deprez R, Zwarthoff E, Hagemeijer A (Apr 1995). "Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11". Oncogene. 10 (8): 1511–9. PMID 7731705.
• Golub TR, Barker GF, Bohlander SK, Hiebert SW, Ward DC, Bray-Ward P, Morgan E, Raimondi SC, Rowley JD, Gilliland DG (May 1995). "Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia". Proceedings of the National Academy of Sciences of the United States of America. 92 (11): 4917–21. doi:10.1073/pnas.92.11.4917. PMC 41818. PMID 7761424.
• Romana SP, Mauchauffé M, Le Coniat M, Chumakov I, Le Paslier D, Berger R, Bernard OA (Jun 1995). "The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion". Blood. 85 (12): 3662–70. PMID 7780150.
• Papadopoulos P, Ridge SA, Boucher CA, Stocking C, Wiedemann LM (Jan 1995). "The novel activation of ABL by fusion to an ets-related gene, TEL". Cancer Research. 55 (1): 34–8. PMID 7805037.
• Golub TR, Barker GF, Lovett M, Gilliland DG (Apr 1994). "Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation". Cell. 77 (2): 307–16. doi:10.1016/0092-8674(94)90322-0. PMID 8168137.
• Wlodarska I, Baens M, Peeters P, Aerssens J, Mecucci C, Brock P, Marynen P, Van den Berghe H (Jun 1996). "Biallelic alterations of both ETV6 and CDKN1B genes in a t(12;21) childhood acute lymphoblastic leukemia case". Cancer Research. 56 (11): 2655–61. PMID 8653712.
• Baens M, Peeters P, Guo C, Aerssens J, Marynen P (May 1996). "Genomic organization of TEL: the human ETS-variant gene 6". Genome Research. 6 (5): 404–13. doi:10.1101/gr.6.5.404. PMID 8743990.
• Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish W, Hawkins M, Hultman M, Kucaba T, Lacy M, Le M, Le N, Mardis E, Moore B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra M (Sep 1996). "Generation and analysis of 280,000 human expressed sequence tags". Genome Research. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
• Andreasson P, Johansson B, Arheden K, Billström R, Mitelman F, Höglund M (Jun 1997). "Deletions of CDKN1B and ETV6 in acute myeloid leukemia and myelodysplastic syndromes without cytogenetic evidence of 12p abnormalities". Genes, Chromosomes & Cancer. 19 (2): 77–83. doi:10.1002/(SICI)1098-2264(199706)19:2<77::AID-GCC2>3.0.CO;2-X. PMID 9171997.
• Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffé M, Berthou C, Lessard M, Berger R, Ghysdael J, Bernard OA (Nov 1997). "A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia". Science. 278 (5341): 1309–12. doi:10.1126/science.278.5341.1309. PMID 9360930.
• Knezevich SR, McFadden DE, Tao W, Lim JF, Sorensen PH (Feb 1998). "A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma". Nature Genetics. 18 (2): 184–7. doi:10.1038/ng0298-184. PMID 9462753.
• Kwiatkowski BA, Bastian LS, Bauer TR, Tsai S, Zielinska-Kwiatkowska AG, Hickstein DD (Jul 1998). "The ets family member Tel binds to the Fli-1 oncoprotein and inhibits its transcriptional activity". The Journal of Biological Chemistry. 273 (28): 17525–30. doi:10.1074/jbc.273.28.17525. PMID 9651344.
• Hannemann JR, McManus DM, Kabarowski JH, Wiedemann LM (Jul 1998). "Haemopoietic transformation by the TEL/ABL oncogene". British Journal of Haematology. 102 (2): 475–85. doi:10.1046/j.1365-2141.1998.00803.x. PMID 9695962.
• Chakrabarti SR, Sood R, Ganguly S, Bohlander S, Shen Z, Nucifora G (Jun 1999). "Modulation of TEL transcription activity by interaction with the ubiquitin-conjugating enzyme UBC9". Proceedings of the National Academy of Sciences of the United States of America. 96 (13): 7467–72. doi:10.1073/pnas.96.13.7467. PMC 22109. PMID 10377438.
• Cools J, Bilhou-Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, Hagemeijer A, Marynen P (Sep 1999). "Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13)". Blood. 94 (5): 1820–4. PMID 10477709.
• Yagasaki F, Jinnai I, Yoshida S, Yokoyama Y, Matsuda A, Kusumoto S, Kobayashi H, Terasaki H, Ohyashiki K, Asou N, Murohashi I, Bessho M, Hirashima K (Nov 1999). "Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13)". Genes, Chromosomes & Cancer. 26 (3): 192–202. doi:10.1002/(SICI)1098-2264(199911)26:3<192::AID-GCC2>3.0.CO;2-E. PMID 10502316.
• Wai DH, Knezevich SR, Lucas T, Jansen B, Kay RJ, Sorensen PH (Feb 2000). "The ETV6-NTRK3 gene fusion encodes a chimeric protein tyrosine kinase that transforms NIH3T3 cells". Oncogene. 19 (7): 906–15. doi:10.1038/sj.onc.1203396. PMID 10702799.

External links

• ETV6 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Drosophila anterior open - The Interactive Fly

This article incorporates text from the United States National Library of Medicine, which is in the public domain.