TCF12 (transcription factor 12)
Written | 2003-07 | Goran Stenman |
Lundberg Laboratory for Cancer Research, Department of Pathology, Goteborg University, Sahlgrenska University Hospital, SE-413 45 Goteborg, Sweden |
(Note : for Links provided by Atlas : click)
1. Identity
Alias_symbol (synonym) | General Information |
HTF4 | |
HsT17266 | |
bHLHb20 | |
Other alias | |
HGNC (Hugo) | TCF12 |
LocusID (NCBI) | 6938 |
Atlas_Id | 406 |
Location | 15q21.3 [Link to chromosome band 15q21] |
Location_base_pair | Starts at 57219457 and ends at 57288516 bp from pter ( according to hg19-Feb_2009) [Mapping TCF12.png] |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
CGNL1 (15q21.3) / TCF12 (15q21.3) | FMNL2 (2q23.3) / TCF12 (15q21.3) | KMT2A (11q23.3) / TCF12 (15q21.3) | |
MAP3K5 (6q23.3) / TCF12 (15q21.3) | MIR548H3 (6q16.1) / TCF12 (15q21.3) | NR4A3 (9q22.33) / TCF12 (15q21.3) | |
OSCP1 (1p34.3) / TCF12 (15q21.3) | RNF111 (15q22.1) / TCF12 (15q21.3) | RREB1 (6p24.3) / TCF12 (15q21.3) | |
RUNX1 (21q22.12) / TCF12 (15q21.3) | TCF12 (15q21.3) / CMAS (12p12.1) | TCF12 (15q21.3) / DDX39B (6p21.33) | |
TCF12 (15q21.3) / FTL (19q13.33) | TCF12 (15q21.3) / KMT2A (11q23.3) | TCF12 (15q21.3) / MGST2 (4q31.1) | |
TCF12 (15q21.3) / NPAS1 (19q13.32) | TCF12 (15q21.3) / NR4A3 (9q22.33) | TCF12 (15q21.3) / NR4A3 (9q31.1) | |
TCF12 (15q21.3) / OSCP1 (1p34.3) | TCF12 (15q21.3) / TCF12 (15q21.3) | TCF12 (15q21.3) / TEX9 (15q21.3) | |
TCF12 (15q21.3) / TMEM255B (13q34) |
2. DNA/RNA
Description | spans 370 kb; 21 exons. |
Transcription | two alternatively spliced transcripts of 4745 bp and 4077 bp. |
3. 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 | ubiquitous |
Localisation | nuclear |
Function | 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. |
Homology | TCF3 and TCF4 |
4. Implicated in
Note | |
Entity | Extraskeletal myxoid chondrosarcoma with t(9;15)(q22;q21). |
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 N-terminals of EWSR1 or TAF2N. |
5. Bibliography
Muscle differentiation: more complexity to the network of myogenic regulators. |
Arnold HH, Winter B |
Current opinion in genetics & development. 1998 ; 8 (5) : 539-544. |
PMID 9794824 |
Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins. |
Doyle K, Zhang Y, Baer R, Bina M |
The Journal of biological chemistry. 1994 ; 269 (16) : 12099-12105. |
PMID 8163514 |
Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4. |
Gan TI, Rowen L, Nesbitt R, Roe BA, Wu H, Hu P, Yao Z, Kim UJ, O'Sickey T, Bina M |
Cytogenetic and genome research. 2002 ; 98 (4) : 245-248. |
PMID 12826747 |
HEB, a helix-loop-helix protein related to E2A and ITF2 that can modulate the DNA-binding ability of myogenic regulatory factors. |
Hu JS, Olson EN, Kingston RE |
Molecular and cellular biology. 1992 ; 12 (3) : 1031-1042. |
PMID 1312219 |
bHLH transcription factors and mammalian neuronal differentiation. |
Kageyama R, Ishibashi M, Takebayashi K, Tomita K |
The international journal of biochemistry & cell biology. 1997 ; 29 (12) : 1389-1399. |
PMID 9570134 |
Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. |
Labelle Y, Zucman J, Stenman G, Kindblom LG, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Mandahl N, Desmaze C, Peter M |
Human molecular genetics. 1995 ; 4 (12) : 2219-2226. |
PMID 8634690 |
Class A helix-loop-helix proteins are positive regulators of several cyclin-dependent kinase inhibitors' promoter activity and negatively affect cell growth. |
Pagliuca A, Gallo P, De Luca P, Lania L |
Cancer research. 2000 ; 60 (5) : 1376-1382. |
PMID 10728702 |
A heterodimer of HEB and an E12-related protein interacts with the CD4 enhancer and regulates its activity in T-cell lines. |
Sawada S, Littman DR |
Molecular and cellular biology. 1993 ; 13 (9) : 5620-5628. |
PMID 8355705 |
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). |
Sjögren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G |
Cancer research. 2000 ; 60 (24) : 6832-6835. |
PMID 11156374 |
HTF4: a new human helix-loop-helix protein. |
Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M |
Nucleic acids research. 1991 ; 19 (16) : page 4555. |
PMID 1886779 |
The nucleotide sequence of the human transcription factor HTF4a cDNA. |
Zhang Y, Bina M |
DNA sequence : the journal of DNA sequencing and mapping. 1992 ; 2 (6) : 397-403. |
PMID 1446075 |
Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21. |
Zhang Y, Flejter WL, Barcroft CL, Rivière M, Szpirer J, Szpirer C, Bina M |
Cytogenetics and cell genetics. 1995 ; 68 (3-4) : 235-238. |
PMID 7842744 |
6. Citation
This paper should be referenced as such : |
Stenman, G |
TCF12 (transcription factor 12) |
Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):174-175. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://atlasgeneticsoncology.usal.es/classic/Genes/TCF12ID406.html |
7. Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
t(11;15)(q23;q21) KMT2A/TCF12
t(15;21)(q21;q22) RUNX1/TCF12 |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 11 ] |
8. External links
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Jan 17 19:09:43 CET 2019 |
For comments and suggestions or contributions, please contact us atlasgeneticsoncology@usal.es.