ETV6

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Ets variant gene 6 (TEL oncogene)
PDB rendering based on 1ji7.
Available structures: 1ji7, 1lky, 2dao
Identifiers
Symbol(s) ETV6; TEL; TEL/ABL
External IDs OMIM: 600618 MGI: 109336 HomoloGene: 37560
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2120 14011
Ensembl ENSG00000139083 ENSMUSG00000030199
Uniprot P41212 Q3U037
Refseq NM_001987 (mRNA)
NP_001978 (protein)		 NM_007961 (mRNA)
NP_031987 (protein)
Location Chr 12: 11.69 - 11.94 Mb Chr 6: 134.09 - 134.24 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 and congenital fibrosarcoma.[1]

Contents

[edit] See also

[edit] References

  1. ^ Entrez Gene: ETV6 ets variant gene 6 (TEL oncogene).

[edit] Further reading

  • 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. 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. 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. 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. PMID 8743990. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. 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. 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. 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. 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. 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. 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. 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. 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. 

[edit] External links

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v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD