ETV6

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Ets variant 6
Protein ETV6 PDB 1ji7.png
PDB rendering based on 1ji7.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ETV6 ; TEL; TEL/ABL
External IDs OMIM600618 MGI109336 HomoloGene37560 GeneCards: ETV6 Gene
RNA expression pattern
PBB GE ETV6 205585 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2120 14011
Ensembl ENSG00000139083 ENSMUSG00000030199
UniProt P41212 P97360
RefSeq (mRNA) NM_001987 NM_007961
RefSeq (protein) NP_001978 NP_031987
Location (UCSC) Chr 12:
11.8 – 12.04 Mb
Chr 6:
134.04 – 134.27 Mb
PubMed search [1] [2]

ETV6 is an oncogene. 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."[1]

Interactions[edit]

ETV6 has been shown to interact with Grb2,[2] FLI1[3] and HTATIP.[4] 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. Etv6tm1a(KOMP)Wtsi
Example structure of targeted conditional mutant allele for this gene
Molecular structure of Etv6 region with inserted mutation sequence
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[edit]

References[edit]

  1. ^ "Entrez Gene: ETV6 ets variant gene 6 (TEL oncogene)". 
  2. ^ Million, Ryan P; Harakawa Nari; Roumiantsev Sergei; Varticovski Lyuba; Van Etten Richard A (Jun 2004). "A direct binding site for Grb2 contributes to transformation and leukemogenesis by the Tel-Abl (ETV6-Abl) tyrosine kinase". Mol. Cell. Biol. (United States) 24 (11): 4685–95. doi:10.1128/MCB.24.11.4685-4695.2004. ISSN 0270-7306. PMC 416425. PMID 15143164. 
  3. ^ Kwiatkowski, B A; Bastian L S; Bauer T R; Tsai S; Zielinska-Kwiatkowska A G; Hickstein D D (Jul 1998). "The ets family member Tel binds to the Fli-1 oncoprotein and inhibits its transcriptional activity". J. Biol. Chem. (UNITED STATES) 273 (28): 17525–30. doi:10.1074/jbc.273.28.17525. ISSN 0021-9258. PMID 9651344. 
  4. ^ Nordentoft, Iver; Jørgensen Poul (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". Biochem. J. (England) 374 (Pt 1): 165–73. doi:10.1042/BJ20030087. ISSN 0264-6021. PMC 1223570. PMID 12737628. 

Further reading[edit]

  • Keung YK, Beaty M, Steward W, et al. (2003). "Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature.". Cancer Genet. Cytogenet. 138 (2): 139–42. doi:10.1016/S0165-4608(02)00609-X. PMID 12505259. 
  • Fainstein E, Einat M, Gokkel E, et al. (1990). "Nucleotide sequence analysis of human abl and bcr-abl cDNAs.". Oncogene 4 (12): 1477–81. PMID 2687768. 
  • Buijs A, Sherr S, van Baal S, et al. (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, et al. (1995). "Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia.". Proc. Natl. Acad. Sci. U.S.A. 92 (11): 4917–21. doi:10.1073/pnas.92.11.4917. PMC 41818. PMID 7761424. 
  • Romana SP, Mauchauffé M, Le Coniat M, et al. (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, et al. (1995). "The novel activation of ABL by fusion to an ets-related gene, TEL.". Cancer Res. 55 (1): 34–8. PMID 7805037. 
  • Golub TR, Barker GF, Lovett M, Gilliland DG (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, et al. (1996). "Biallelic alterations of both ETV6 and CDKN1B genes in a t(12;21) childhood acute lymphoblastic leukemia case.". Cancer Res. 56 (11): 2655–61. PMID 8653712. 
  • Baens M, Peeters P, Guo C, et al. (1996). "Genomic organization of TEL: the human ETS-variant gene 6.". Genome Res. 6 (5): 404–13. doi:10.1101/gr.6.5.404. PMID 8743990. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
  • Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549. 
  • Andreasson P, Johansson B, Arheden K, et al. (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, et al. (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, et al. (1998). "A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma.". Nat. Genet. 18 (2): 184–7. doi:10.1038/ng0298-184. PMID 9462753. 
  • Kwiatkowski BA, Bastian LS, Bauer TR, et al. (1998). "The ets family member Tel binds to the Fli-1 oncoprotein and inhibits its transcriptional activity.". J. Biol. Chem. 273 (28): 17525–30. doi:10.1074/jbc.273.28.17525. PMID 9651344. 
  • Hannemann JR, McManus DM, Kabarowski JH, Wiedemann LM (1998). "Haemopoietic transformation by the TEL/ABL oncogene.". Br. J. Haematol. 102 (2): 475–85. doi:10.1046/j.1365-2141.1998.00803.x. PMID 9695962. 
  • Chakrabarti SR, Sood R, Ganguly S, et al. (1999). "Modulation of TEL transcription activity by interaction with the ubiquitin-conjugating enzyme UBC9.". Proc. Natl. Acad. Sci. U.S.A. 96 (13): 7467–72. doi:10.1073/pnas.96.13.7467. PMC 22109. PMID 10377438. 
  • Cools J, Bilhou-Nabera C, Wlodarska I, et al. (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, et al. (2000). "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, et al. (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[edit]

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