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edit Core-binding factor, runt domain, alpha subunit 2; translocated to, 3 PDB rendering based on 2h7b. Available structures PDB 2h7b Identifiers Symbols CBFA2T3; ETO2; MTG16; MTGR2; ZMYND4 External IDs OMIM: 603870 MGI: 1338013 HomoloGene: 74543 GeneCards: CBFA2T3 Gene Gene Ontology Molecular function • transcription factor activity • zinc ion binding Cellular component • nucleus Biological process • regulation of transcription, DNA-dependent • cell proliferation RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 863 12398 Ensembl ENSG00000129993 ENSMUSG00000006362 UniProt n/a n/a RefSeq (mRNA) NM_005187 NM_009824 RefSeq (protein) NP_005178 NP_033954 Location (UCSC) Chr 16: 87.47 - 87.57 Mb Chr 8: 125.52 - 125.59 Mb PubMed search [1] [2] Protein CBFA2T3 is a protein that in humans is encoded by the CBFA2T3 gene.[1][2] The t(16;21)(q24;q22) translocation is a rare but recurrent chromosomal abnormality associated with therapy-related myeloid malignancies. The translocation produces a chimeric gene made up of the 5'-region of the AML1 gene fused to the 3'-region of this gene. In addition, this gene is a putative breast tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene, and a brefeldin A-sensitive association of RII-alpha protein with one of the isoforms has been demonstrated in the Golgi apparatus.[2] Contents 1 Interactions 2 References 3 Further reading 4 External links Interactions CBFA2T3 has been shown to interact with HDAC1,[3][4] HDAC3,[3][4] TCF3,[5] LDB1,[5] TAL1,[5] RUNX1T1[6][3] and PRKAR2A.[7] References ^ Calabi F, Cilli V (Dec 1998). "CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family". Genomics 52 (3): 332–41. doi:10.1006/geno.1998.5429. PMID 9790752.  ^ a b "Entrez Gene: CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=863.  ^ a b c Hoogeveen, André T; Rossetti Stefano, Stoyanova Violeta, Schonkeren Joris, Fenaroli Angelia, Schiaffonati Luisa, van Unen Leontine, Sacchi Nicoletta (Sep. 2002). "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies". Oncogene (England) 21 (43): 6703–12. doi:10.1038/sj.onc.1205882. ISSN 0950-9232. PMID 12242670.  ^ a b Amann, J M; Nip J, Strom D K, Lutterbach B, Harada H, Lenny N, Downing J R, Meyers S, Hiebert S W (Oct. 2001). "ETO, a target of t(8;21) in acute leukemia, makes distinct contacts with multiple histone deacetylases and binds mSin3A through its oligomerization domain". Mol. Cell. Biol. (United States) 21 (19): 6470–83. doi:10.1128/MCB.21.19.6470-6483.2001. ISSN 0270-7306. PMC 99794. PMID 11533236.  ^ a b c Goardon, Nicolas; Lambert Julie A, Rodriguez Patrick, Nissaire Philippe, Herblot Sabine, Thibault Pierre, Dumenil Dominique, Strouboulis John, Romeo Paul-Henri, Hoang Trang (Jan. 2006). "ETO2 coordinates cellular proliferation and differentiation during erythropoiesis". EMBO J. (England) 25 (2): 357–66. doi:10.1038/sj.emboj.7600934. ISSN 0261-4189. PMC 1383517. PMID 16407974.  ^ Lindberg, Sofia Rondin; Olsson André, Persson Ann-Maj, Olsson Inge (Dec. 2003). "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins". Eur. J. Haematol. (Denmark) 71 (6): 439–47. doi:10.1046/j.0902-4441.2003.00166.x. ISSN 0902-4441. PMID 14703694.  ^ Schillace, Robynn V; Andrews Sarah F, Liberty Greg A, Davey Michael P, Carr Daniel W (Feb. 2002). "Identification and characterization of myeloid translocation gene 16b as a novel a kinase anchoring protein in T lymphocytes". J. Immunol. (United States) 168 (4): 1590–9. ISSN 0022-1767. PMID 11823486.  Further reading Kitabayashi I, Ida K, Morohoshi F, et al. (1998). "The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1.". Mol. Cell. Biol. 18 (2): 846–58. PMC 108796. PMID 9447981.  Gamou T, Kitamura E, Hosoda F, et al. (1998). "The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family.". Blood 91 (11): 4028–37. PMID 9596646.  Schillace RV, Andrews SF, Liberty GA, et al. (2002). "Identification and characterization of myeloid translocation gene 16b as a novel a kinase anchoring protein in T lymphocytes.". J. Immunol. 168 (4): 1590–9. PMID 11823486.  Kondoh K, Nakata Y, Furuta T, et al. (2003). "A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene.". Leuk. Lymphoma 43 (2): 415–20. doi:10.1080/10428190290006242. PMID 11999578.  Kochetkova M, McKenzie OL, Bais AJ, et al. (2002). "CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3.". Cancer Res. 62 (16): 4599–604. PMID 12183414.  Powell JA, Gardner AE, Bais AJ, et al. (2003). "Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes.". Genomics 80 (3): 303–10. doi:10.1006/geno.2002.6828. PMID 12213200.  Hoogeveen AT, Rossetti S, Stoyanova V, et al. (2002). "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies.". Oncogene 21 (43): 6703–12. doi:10.1038/sj.onc.1205882. PMID 12242670.  Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.  Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.  Lindberg SR, Olsson A, Persson AM, Olsson I (2004). "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins.". Eur. J. Haematol. 71 (6): 439–47. doi:10.1046/j.0902-4441.2003.00166.x. PMID 14703694.  Ibañez V, Sharma A, Buonamici S, et al. (2004). "AML1-ETO decreases ETO-2 (MTG16) interactions with nuclear receptor corepressor, an effect that impairs granulocyte differentiation.". Cancer Res. 64 (13): 4547–54. doi:10.1158/0008-5472.CAN-03-3689. PMID 15231665.  Kumar R, Manning J, Spendlove HE, et al. (2006). "ZNF652, a novel zinc finger protein, interacts with the putative breast tumor suppressor CBFA2T3 to repress transcription.". Mol. Cancer Res. 4 (9): 655–65. doi:10.1158/1541-7786.MCR-05-0249. PMID 16966434.  v · d · ePDB gallery 2h7b: Solution structure of the eTAFH domain from the human leukemia-associated fusion protein AML1-ETO   External links MeSH CBFA2T3+protein,+human This article on a gene on chromosome 16 is a stub. You can help Wikipedia by expanding it.v · d · e This article incorporates text from the United States National Library of Medicine, which is in the public domain. v · d · eTranscription 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, L3) · NFIL3 · NRL · NRF (1, 2, 3) · XBP1 (1.2) Basic helix-loop-helix (bHLH) ATOH1 · AhR · AHRR · ARNT · ASCL1 · BHLHB2 · BMAL (ARNTL, ARNTL2) · CLOCK · EPAS1 · FIGLA · HAND (1, 2) · HES (5, 6) · HEY (1, 2, L) · HES1 · HIF (1A, 3A) · ID (1, 2, 3, 4) · LYL1 · MESP2 · MXD4 · MYCL1 · MYCN · Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) · Neurogenins (1, 2, 3) · NeuroD (1, 2) · NPAS (1, 2, 3) · OLIG (1, 2) · Pho4 · Scleraxis · SIM (1, 2) · TAL (1, 2) · Twist · USF1 (1.3) bHLH-ZIP AP-4 · MAX · MITF · MNT · MLX · MXI1 · Myc · SREBP (1, 2) (1.4) NF-1 NFI (A, B, C, X) · SMAD (R-SMAD (1, 2, 3, 5, 9) - I-SMAD (6, 7) - 4) (1.5) RF-X RFX (1, 2, 3, 4, 5, ANK) (1.6) Basic helix-span-helix (bHSH) AP-2 (α, β, γ, δ, ε)  (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 (Androgen, Estrogen (α, β), Glucocorticoid, Mineralocorticoid, Progesterone), Estrogen related (α, β, γ)) 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) · TRPS1 (2.3) Cys2His2 General transcription factors (TFIIA, TFIIB, TFIID, TFIIE (1, 2), TFIIF (1, 2), TFIIH (1, 2, 4, 2I, 3A, 3C1, 3C2)) ATBF1 · BCL (6, 11A, 11B) · CTCF · E4F1 · EGR (2, 3) · ERV3 · GFI1 · GLI-Krüppel family (1, 2, 3, REST, S2, YY1) · HIC (1, 2) · HIVEP (1, 2, 3) · IKZF (1, 2, 3) · ILF (2, 3) · KLF (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 17) · MTF1 · MYT1 · OSR1 · PRDM9 · SALL (1, 2, 3, 4) · SP (1, 2, 4, 7, 8) · TSHZ3 · WT1 · Zbtb7 (7A, 7B) · ZBTB (16, 17, 20, 32, 33, 40) · 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, 300, 318, 330, 346, 350, 365, 366, 384, 423, 451, 452, 471, 593, 638, 649, 655) (2.4) Cys6 HIVEP1 (2.5) Alternating composition AIRE · DIDO1 · GRLF1 · ING (1, 2, 4) · JARID (1A, 1B, 1C, 1D, 2) · JMJD1B  (3) Helix-turn-helix domains (3.1) Homeodomain ARX · CDX (1, 2) · CRX · CUTL1 · DBX (1, 2)  · DLX (3, 4, 5) · EMX2 · EN (1, 2) · FHL (1, 2, 3) · HESX1 · HHEX · HLX · Homeobox (A1, A2, 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 · IRX (1, 2, 3, 4, 5, 6, MKX) · LMX (1A, 1B) · MEIS (1, 2) · MEOX2 · MNX1 · MSX (1, 2) · NANOG · NKX (2-1, 2-2, 2-3, 2-5, 3-1, 3-2, 6-1, 6-2) · NOBOX · PBX (1, 2, 3) · PHF (1, 3, 6, 8, 10, 16, 17, 20, 21A) · PHOX (2A, 2B)  · PITX (1, 2, 3) · POU domain (PIT-1, BRN-3: A, B, C, Octamer transcription factor: 1, 2, 3/4, 6, 7, 11) · OTX (1, 2) · PDX1 · SATB2 · SHOX2 · VAX1 · ZEB (1, 2) (3.2) Paired box PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) (3.3) Fork head / winged helix E2F (1, 2, 3, 4, 5) · FOX proteins (A1, A2, A3, C1, C2, D3, D4, E1, E3, F1, G1, H1, J2, K1, K2, L2, M1, N1, N3, O1, O3, O4, P1, P2, P3, P4) (3.4) Heat Shock Factors HSF (1, 2, 4) (3.5) Tryptophan clusters ELF (2, 4, 5) · EGF · ELK (1, 3, 4) · ERF · ETS (1, 2, ERG, SPIB) · 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, 3, 4)  (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 p53 · TBX (1, 2, 3, 5, 19, 21, 22, Brachyury, TBR1) (4.4) MADS box Mef2 (A, B, C, D) · SRF (4.6) TATA binding proteins TBP · TBPL1 (4.7) High-mobility group HMGB (1, 2, 3, 4) · HMGN (1, 2, 3, 4)  · HNF (1A, 1B) · LEF1 · SOX (1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) · SRY · SSRP1 · TCF (3, 4) · TOX (1, 2, 3, 4) (4.10) Cold-shock domain CSDA, YBX1 (4.11) Runt CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1)   (0) Other transcription factors (0.2) HMGI(Y) HMGA (1, 2) · HBP1 (0.3) Pocket domain 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 · NFY (A, B, C) · Rho/Sigma see also transcription factor/coregulator deficiencies B bsyn: dna (repl, cycl, reco, repr) · tscr (fact, tcrg, nucl, rnat, rept, ptts) · tltn (risu, pttl, nexn) · dnab, rnab/runp · stru (domn, 1°, 2°, 3°, 4°)