Download Gene Section TCF12 (transcription factor 12) Atlas of Genetics and Cytogenetics

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in Oncology and Haematology
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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