{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Transcription factor 12''' is a protein that in humans is encoded by the ''TCF12'' gene.<ref name="pmid1886779">{{cite journal | vauthors = Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M | title = HTF4: a new human helix-loop-helix protein | journal = Nucleic Acids Research | volume = 19 | issue = 16 | page = 4555 | date = August 1991 | pmid = 1886779 | pmc = 328652 | doi = 10.1093/nar/19.16.4555 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=6938}}</ref>
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.<ref name="entrez">{{cite web | title = Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=6938}}</ref> TCF12 has been speculatively related to human male sexuality through a GWAS study indicating association to a related single nucleotide polymorphism.<ref>{{cite journal | vauthors = 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 | display-authors = 6 | title = Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior | journal = Science | volume = 365 | issue = 6456 | article-number = eaat7693 | date = August 2019 | pmid = 31467194 | doi = 10.1126/science.aat7693 | pmc = 7082777 }}</ref> Mutations in this gene have also been associated with cases of coronal craniosynostosis.<ref>{{cite journal | vauthors = 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 | display-authors = 6 | title = Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis | journal = Nature Genetics | volume = 45 | issue = 3 | pages = 304–7 | date = March 2013 | pmid = 23354436 | pmc = 3647333 | doi = 10.1038/ng.2531 }}</ref>
TCF12 is the primary heterodimerising partner of TCF21, a tumour suppressor gene and a target of SRY/SOX9 activity.<ref>{{cite journal | vauthors = Bhandari RK, Sadler-Riggleman I, Clement TM, Skinner MK | title = Basic helix-loop-helix transcription factor TCF21 is a downstream target of the male sex determining gene SRY | journal = PLOS ONE | volume = 6 | issue = 5 | article-number = e19935 | date = 2011-05-17 | pmid = 21637323 | pmc = 3101584 | doi = 10.1371/journal.pone.0019935 | bibcode = 2011PLoSO...619935B | doi-access = free }}</ref>
== References == {{reflist}}
== Further reading == {{refbegin | 2}} * {{cite journal | vauthors = Bain G, Murre C | title = The role of E-proteins in B- and T-lymphocyte development | journal = Seminars in Immunology | volume = 10 | issue = 2 | pages = 143–53 | date = April 1998 | pmid = 9618760 | doi = 10.1006/smim.1998.0116 }} * {{cite journal | vauthors = Hu JS, Olson EN, Kingston RE | title = HEB, a helix-loop-helix protein related to E2A and ITF2 that can modulate the DNA-binding ability of myogenic regulatory factors | journal = Molecular and Cellular Biology | volume = 12 | issue = 3 | pages = 1031–42 | date = March 1992 | pmid = 1312219 | pmc = 369535 | doi = 10.1128/MCB.12.3.1031 }} * {{cite journal | vauthors = Zhang Y, Bina M | title = The nucleotide sequence of the human transcription factor HTF4a cDNA | journal = DNA Sequence | volume = 2 | issue = 6 | pages = 397–403 | year = 1992 | pmid = 1446075 | doi = 10.3109/10425179209020819 }} * {{cite journal | vauthors = Zhang Y, Doyle K, Bina M | title = Interactions of HTF4 with E-box motifs in the long terminal repeat of human immunodeficiency virus type 1 | journal = Journal of Virology | volume = 66 | issue = 9 | pages = 5631–4 | date = September 1992 | pmid = 1501295 | pmc = 289128 | doi = 10.1128/JVI.66.9.5631-5634.1992}} * {{cite journal | vauthors = Sommer L, Hagenbüchle O, Wellauer PK, Strubin M | title = Nuclear targeting of the transcription factor PTF1 is mediated by a protein subunit that does not bind to the PTF1 cognate sequence | journal = Cell | volume = 67 | issue = 5 | pages = 987–94 | date = November 1991 | pmid = 1720355 | doi = 10.1016/0092-8674(91)90371-5 | s2cid = 1315068 }} * {{cite journal | vauthors = Zhang Y, Flejter WL, Barcroft CL, Rivière M, Szpirer J, Szpirer C, Bina M | title = Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21 | journal = Cytogenetics and Cell Genetics | volume = 68 | issue = 3–4 | pages = 235–8 | year = 1995 | pmid = 7842744 | doi = 10.1159/000133921 }} * {{cite journal | vauthors = Doyle K, Zhang Y, Baer R, Bina M | title = Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins | journal = The Journal of Biological Chemistry | volume = 269 | issue = 16 | pages = 12099–105 | date = April 1994 | doi = 10.1016/S0021-9258(17)32686-8 | pmid = 8163514 | doi-access = free }} * {{cite journal | vauthors = Langlands K, Yin X, Anand G, Prochownik EV | title = Differential interactions of Id proteins with basic-helix-loop-helix transcription factors | journal = The Journal of Biological Chemistry | volume = 272 | issue = 32 | pages = 19785–93 | date = August 1997 | pmid = 9242638 | doi = 10.1074/jbc.272.32.19785 | doi-access = free }} * {{cite journal | vauthors = Goldfarb AN, Lewandowska K, Pennell CA | title = Identification of a highly conserved module in E proteins required for in vivo helix-loop-helix dimerization | journal = The Journal of Biological Chemistry | volume = 273 | issue = 5 | pages = 2866–73 | date = January 1998 | pmid = 9446597 | doi = 10.1074/jbc.273.5.2866 | doi-access = free }} * {{cite journal | vauthors = Massari ME, Rivera RR, Voland JR, Quong MW, Breit TM, van Dongen JJ, de Smit O, Murre C | display-authors = 6 | title = Characterization of ABF-1, a novel basic helix-loop-helix transcription factor expressed in activated B lymphocytes | journal = Molecular and Cellular Biology | volume = 18 | issue = 6 | pages = 3130–9 | date = June 1998 | pmid = 9584154 | pmc = 108895 | doi = 10.1128/mcb.18.6.3130 }} * {{cite journal | vauthors = Adell T, Gómez-Cuadrado A, Skoudy A, Pettengill OS, Longnecker DS, Real FX | title = Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells | journal = Cell Growth & Differentiation | volume = 11 | issue = 3 | pages = 137–47 | date = March 2000 | pmid = 10768861 }} * {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA cloning using in vitro site-specific recombination | journal = Genome Research | volume = 10 | issue = 11 | pages = 1788–95 | date = November 2000 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }} * {{cite journal | vauthors = 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 | display-authors = 6 | title = Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs | journal = Genome Research | volume = 11 | issue = 3 | pages = 422–35 | date = March 2001 | pmid = 11230166 | pmc = 311072 | doi = 10.1101/gr.GR1547R }} * {{cite journal | vauthors = Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S | title = Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing | journal = EMBO Reports | volume = 1 | issue = 3 | pages = 287–92 | date = September 2000 | pmid = 11256614 | pmc = 1083732 | doi = 10.1093/embo-reports/kvd058 }} * {{cite journal | vauthors = Mandolesi G, Gargano S, Pennuto M, Illi B, Molfetta R, Soucek L, Mosca L, Levi A, Jucker R, Nasi S | display-authors = 6 | title = NGF-dependent and tissue-specific transcription of vgf is regulated by a CREB-p300 and bHLH factor interaction | journal = FEBS Letters | volume = 510 | issue = 1–2 | pages = 50–6 | date = January 2002 | pmid = 11755530 | doi = 10.1016/S0014-5793(01)03227-6 | bibcode = 2002FEBSL.510...50M | s2cid = 19320196 | doi-access = free }} * {{cite journal | vauthors = Knöfler M, Meinhardt G, Bauer S, Loregger T, Vasicek R, Bloor DJ, Kimber SJ, Husslein P | display-authors = 6 | title = Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains | journal = The Biochemical Journal | volume = 361 | issue = Pt 3 | pages = 641–51 | date = February 2002 | pmid = 11802795 | pmc = 1222348 | doi = 10.1042/0264-6021:3610641 }} * {{cite journal | vauthors = Tremblay M, Herblot S, Lecuyer E, Hoang T | title = Regulation of pT alpha gene expression by a dosage of E2A, HEB, and SCL | journal = The Journal of Biological Chemistry | volume = 278 | issue = 15 | pages = 12680–7 | date = April 2003 | pmid = 12566462 | doi = 10.1074/jbc.M209870200 | doi-access = free }} {{refend}}
== External links == * {{FactorBook|TCF12}}
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