TCF12 explained
Transcription factor 12 is a protein that in humans is encoded by the TCF12 gene.[1] [2]
The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[3] TCF12 has been speculatively related to human male sexuality through a GWAS study indicating association to a related single nucleotide polymorphism.[4] Mutations in this gene have also been associated with cases of coronal craniosynostosis.[5]
TCF12 is the primary heterodimerising partner of TCF21, a tumour suppressor gene and a target of SRY/SOX9 activity.[6]
Further reading
- Bain G, Murre C . The role of E-proteins in B- and T-lymphocyte development . Seminars in Immunology . 10 . 2 . 143–53 . April 1998 . 9618760 . 10.1006/smim.1998.0116 .
- 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 . Molecular and Cellular Biology . 12 . 3 . 1031–42 . March 1992 . 1312219 . 369535 . 10.1128/MCB.12.3.1031 .
- Zhang Y, Bina M . The nucleotide sequence of the human transcription factor HTF4a cDNA . DNA Sequence . 2 . 6 . 397–403 . 1992 . 1446075 . 10.3109/10425179209020819 .
- Zhang Y, Doyle K, Bina M . Interactions of HTF4 with E-box motifs in the long terminal repeat of human immunodeficiency virus type 1 . Journal of Virology . 66 . 9 . 5631–4 . September 1992 . 1501295 . 289128 . 10.1128/JVI.66.9.5631-5634.1992.
- Sommer L, Hagenbüchle O, Wellauer PK, Strubin M . Nuclear targeting of the transcription factor PTF1 is mediated by a protein subunit that does not bind to the PTF1 cognate sequence . Cell . 67 . 5 . 987–94 . November 1991 . 1720355 . 10.1016/0092-8674(91)90371-5 . 1315068 .
- 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 . Cytogenetics and Cell Genetics . 68 . 3–4 . 235–8 . 1995 . 7842744 . 10.1159/000133921 .
- Doyle K, Zhang Y, Baer R, Bina M . Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins . The Journal of Biological Chemistry . 269 . 16 . 12099–105 . April 1994 . 10.1016/S0021-9258(17)32686-8 . 8163514 . free .
- Langlands K, Yin X, Anand G, Prochownik EV . Differential interactions of Id proteins with basic-helix-loop-helix transcription factors . The Journal of Biological Chemistry . 272 . 32 . 19785–93 . August 1997 . 9242638 . 10.1074/jbc.272.32.19785 . free .
- Goldfarb AN, Lewandowska K, Pennell CA . Identification of a highly conserved module in E proteins required for in vivo helix-loop-helix dimerization . The Journal of Biological Chemistry . 273 . 5 . 2866–73 . January 1998 . 9446597 . 10.1074/jbc.273.5.2866 . free .
- Massari ME, Rivera RR, Voland JR, Quong MW, Breit TM, van Dongen JJ, de Smit O, Murre C . 6 . Characterization of ABF-1, a novel basic helix-loop-helix transcription factor expressed in activated B lymphocytes . Molecular and Cellular Biology . 18 . 6 . 3130–9 . June 1998 . 9584154 . 108895 . 10.1128/mcb.18.6.3130 .
- Adell T, Gómez-Cuadrado A, Skoudy A, Pettengill OS, Longnecker DS, Real FX . Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells . Cell Growth & Differentiation . 11 . 3 . 137–47 . March 2000 . 10768861 .
- Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination . Genome Research . 10 . 11 . 1788–95 . November 2000 . 11076863 . 310948 . 10.1101/gr.143000 .
- Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A . 6 . Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs . Genome Research . 11 . 3 . 422–35 . March 2001 . 11230166 . 311072 . 10.1101/gr.GR1547R .
- Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing . EMBO Reports . 1 . 3 . 287–92 . September 2000 . 11256614 . 1083732 . 10.1093/embo-reports/kvd058 .
- Mandolesi G, Gargano S, Pennuto M, Illi B, Molfetta R, Soucek L, Mosca L, Levi A, Jucker R, Nasi S . 6 . NGF-dependent and tissue-specific transcription of vgf is regulated by a CREB-p300 and bHLH factor interaction . FEBS Letters . 510 . 1–2 . 50–6 . January 2002 . 11755530 . 10.1016/S0014-5793(01)03227-6 . 19320196 . free .
- Knöfler M, Meinhardt G, Bauer S, Loregger T, Vasicek R, Bloor DJ, Kimber SJ, Husslein P . 6 . Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains . The Biochemical Journal . 361 . Pt 3 . 641–51 . February 2002 . 11802795 . 1222348 . 10.1042/0264-6021:3610641 .
- Tremblay M, Herblot S, Lecuyer E, Hoang T . Regulation of pT alpha gene expression by a dosage of E2A, HEB, and SCL . The Journal of Biological Chemistry . 278 . 15 . 12680–7 . April 2003 . 12566462 . 10.1074/jbc.M209870200 . free .
Notes and References
- Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M . HTF4: a new human helix-loop-helix protein . Nucleic Acids Research . 19 . 16 . 4555 . August 1991 . 1886779 . 328652 . 10.1093/nar/19.16.4555 .
- Web site: Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4).
- Web site: Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4).
- Ganna A, Verweij KJ, Nivard MG, Maier R, Wedow R, Busch AS, Abdellaoui A, Guo S, Sathirapongsasuti JF, Lichtenstein P, Lundström S, Långström N, Auton A, Harris KM, Beecham GW, Martin ER, Sanders AR, Perry JR, Neale BM, Zietsch BP . 6 . Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior . Science . 365 . 6456 . eaat7693 . August 2019 . 31467194 . 10.1126/science.aat7693 . 7082777 .
- Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO . 6 . Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis . Nature Genetics . 45 . 3 . 304–7 . March 2013 . 23354436 . 3647333 . 10.1038/ng.2531 .
- Bhandari RK, Sadler-Riggleman I, Clement TM, Skinner MK . Basic helix-loop-helix transcription factor TCF21 is a downstream target of the male sex determining gene SRY . PLOS ONE . 6 . 5 . e19935 . 2011-05-17 . 21637323 . 3101584 . 10.1371/journal.pone.0019935 . 2011PLoSO...619935B . free .