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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Mini Review TCF12 (transcription factor 12) Göran Stenman Lundberg Laboratory for Cancer Research, Department of Pathology, Goteborg University, Sahlgrenska University Hospital, SE-413 45 Goteborg, Sweden (GS) Published in Atlas Database: July 2003 Online updated version: http://AtlasGeneticsOncology.org/Genes/TCF12ID406.html DOI: 10.4267/2042/37986 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2003 Atlas of Genetics and Cytogenetics in Oncology and Haematology Homology Identity TCF3 and TCF4. Other names: HTF4; HEB HGNC (Hugo): TCF12 Location: 15q21 Implicated in Extraskeletal myxoid chondrosarcoma with t(9;15)(q22;q21) DNA/RNA Disease Rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage. Hybrid/Mutated gene TCF12-TEC Abnormal protein N-terminal domain of TCF12 fused to the entire TEC protein; the translocation separates the N-terminal of TCF12 from the bHLH domain as well as from a potential leucine zipper domain; the N-terminal of TCF12 shows no sequence homology to the Nterminals of EWSR1 or TAF2N. Description Spans 370 kb; 21 exons. Transcription Two alternatively spliced transcripts of 4745 bp and 4077 bp. Protein Description 682 aa, 73 kDa; serine rich N-terminus containing a potential leuzine zipper domain; C-terminus containing a bHLH-domain as well as a class A-specific domain. Expression References Ubiquitous. Localisation Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M. HTF4: a new human helix-loop-helix protein. Nucleic Acids Res. 1991 Aug 25;19(16):4555 Nuclear. Function Hu JS, Olson EN, Kingston RE. HEB, a helix-loop-helix protein related to E2A and ITF2 that can modulate the DNA-binding ability of myogenic regulatory factors. Mol Cell Biol. 1992 Mar;12(3):1031-42 Basic helix-loop-helix (bHLH) transcription factor belonging to the class A family; acts as a general negative regulator of cell proliferation; binds specifically to oligomers of E-box motifs; forms heterodimers with other bHLH proteins of both class A and class B, e.g. E2A, TAL1, myogenin and MyoD; implicated in myogenesis, hematopoiesis and neurogenesis. Atlas Genet Cytogenet Oncol Haematol. 2003; 7(3) Zhang Y, Bina M. The nucleotide sequence of the human transcription factor HTF4a cDNA. DNA Seq. 1992;2(6):397-403 Sawada S, Littman DR. A heterodimer of HEB and an E12related protein interacts with the CD4 enhancer and regulates its activity in T-cell lines. Mol Cell Biol. 1993 Sep;13(9):5620-8 177 TCF12 (transcription factor 12) Stenman G Doyle K, Zhang Y, Baer R, Bina M. Distinguishable patterns of protein-DNA interactions involving complexes of basic helixloop-helix proteins. J Biol Chem. 1994 Apr 22;269(16):12099105 extraskeletal myxoid chondrosarcoma. Cancer Res. 1999 Oct 15;59(20):5064-7 Pagliuca A, Gallo P, De Luca P, Lania L. Class A helix-loophelix proteins are positive regulators of several cyclindependent kinase inhibitors' promoter activity and negatively affect cell growth. Cancer Res. 2000 Mar 1;60(5):1376-82 Labelle Y, Zucman J, Stenman G, Kindblom LG, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Mandahl N, Desmaze C, Peter M. Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. Hum Mol Genet. 1995 Dec;4(12):2219-26 Sjögren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G. Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21). Cancer Res. 2000 Dec 15;60(24):6832-5 Zhang Y, Flejter WL, Barcroft CL, Rivière M, Szpirer J, Szpirer C, Bina M. Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21. Cytogenet Cell Genet. 1995;68(3-4):235-8 Gan TI, Rowen L, Nesbitt R, Roe BA, Wu H, Hu P, Yao Z, Kim UJ, O'Sickey T, Bina M. Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4. Cytogenet Genome Res. 2002;98(4):245-8 Kageyama R, Ishibashi M, Takebayashi K, Tomita K. bHLH transcription factors and mammalian neuronal differentiation. Int J Biochem Cell Biol. 1997 Dec;29(12):1389-99 Arnold HH, Winter B. Muscle differentiation: more complexity to the network of myogenic regulators. Curr Opin Genet Dev. 1998 Oct;8(5):539-44 This article should be referenced as such: Stenman G. TCF12 (transcription factor 12). Atlas Genet Cytogenet Oncol Haematol. 2003; 7(3):177-178. Sjögren H, Meis-Kindblom J, Kindblom LG, Aman P, Stenman G. Fusion of the EWS-related gene TAF2N to TEC in Atlas Genet Cytogenet Oncol Haematol. 2003; 7(3) 178