Atlas of Genetics and Cytogenetics in Oncology and Haematology
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
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Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
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TCF12 (transcription factor 12)
| Identity |
| Other names | HTF4 |
| HEB | |
| HGNC (Hugo) | TCF12 |
| LocusID (NCBI) | 6938 |
| Location | 15q21.3 |
| Location_base_pair | Starts at 57210833 and ends at 57580714 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| DNA/RNA |
| 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 | 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 |
| Implicated in |
| 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. |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) |
| Solid Tumors | AmeloblastomID5945 | MedulloblastomaID5065 | rhabID5004 |
| External links |
| Bibliography |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21. |
| Zhang Y, Flejter WL, Barcroft CL, RiviŪre M, Szpirer J, Szpirer C, Bina M |
| Cytogenetics and cell genetics. 1995 ; 68 (3-4) : 235-238. |
| PMID 7842744 |
| 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 |
| 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 |
| Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. |
| Sjgren H, Meis-Kindblom J, Kindblom LG, Aman P, Stenman G |
| Cancer research. 1999 ; 59 (20) : 5064-5067. |
| PMID 10537274 |
| 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 |
| 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). |
| Sjgren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G |
| Cancer research. 2000 ; 60 (24) : 6832-6835. |
| PMID 11156374 |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 07-2003 | Goran Stenman |
| 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 ] |
| URL : http://AtlasGeneticsOncology.org/Genes/TCF12ID406.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Feb 17 20:41:36 CET 2015 |
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