TCF12

Transcription factor 12
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2KNH​, 4JOL​
Identifiers
Symbols	TCF12 ; CRS3; HEB; HTF4; HsT17266; TCF-12; bHLHb20
External IDs	OMIM: 600480 MGI: 101877 HomoloGene: 40774 GeneCards: TCF12 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • transcription factor activity, sequence-specific DNA binding • protein binding • transcription factor binding • enhancer binding • cAMP response element binding • protein homodimerization activity • bHLH transcription factor binding • transcription regulatory region DNA binding • SMAD binding • protein heterodimerization activity • E-box binding • HMG box domain binding Cellular component • nuclear chromatin • nucleus • cytoplasm • RNA polymerase II transcription factor complex Biological process • regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • immune response • muscle organ development • positive regulation of neuron differentiation • positive regulation of transcription from RNA polymerase II promoter Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6938	21406
Ensembl	ENSG00000140262	ENSMUSG00000032228
UniProt	Q99081	Q61286
RefSeq (mRNA)	NM_001306219	NM_001253862
RefSeq (protein)	NP_001293148	NP_001240791
Location (UCSC)	Chr 15: 56.92 – 57.3 Mb	Chr 9: 71.84 – 72.11 Mb
PubMed search

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.^[2]

Mutations in this gene have been associated to cases of coronal craniosynostosis (doi: 10.1038/ng.2531)

References

1. Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M (Oct 1991). "HTF4: a new human helix-loop-helix protein". Nucleic Acids Res 19 (16): 4555. doi:10.1093/nar/19.16.4555. PMC 328652. PMID 1886779.
2. "Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)".

Further reading

• Bain G, Murre C (1998). "The role of E-proteins in B- and T-lymphocyte development.". Semin. Immunol. 10 (2): 143–53. doi:10.1006/smim.1998.0116. PMID 9618760.
• Hu JS, Olson EN, Kingston RE (1992). "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. 12 (3): 1031–42. PMC 369535. PMID 1312219.
• Zhang Y, Bina M (1992). "The nucleotide sequence of the human transcription factor HTF4a cDNA.". DNA Seq. 2 (6): 397–403. doi:10.3109/10425179209020819. PMID 1446075.
• Zhang Y, Doyle K, Bina M (1992). "Interactions of HTF4 with E-box motifs in the long terminal repeat of human immunodeficiency virus type 1.". J. Virol. 66 (9): 5631–4. PMC 289128. PMID 1501295.
• Sommer L, Hagenbüchle O, Wellauer PK, Strubin M (1992). "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. doi:10.1016/0092-8674(91)90371-5. PMID 1720355.
• Zhang Y, Flejter WL, Barcroft CL, et al. (1995). "Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21.". Cytogenet. Cell Genet. 68 (3-4): 235–8. doi:10.1159/000133921. PMID 7842744.
• Doyle K, Zhang Y, Baer R, Bina M (1994). "Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins.". J. Biol. Chem. 269 (16): 12099–105. PMID 8163514.
• Langlands K, Yin X, Anand G, Prochownik EV (1997). "Differential interactions of Id proteins with basic-helix-loop-helix transcription factors.". J. Biol. Chem. 272 (32): 19785–93. doi:10.1074/jbc.272.32.19785. PMID 9242638.
• Goldfarb AN, Lewandowska K, Pennell CA (1998). "Identification of a highly conserved module in E proteins required for in vivo helix-loop-helix dimerization.". J. Biol. Chem. 273 (5): 2866–73. doi:10.1074/jbc.273.5.2866. PMID 9446597.
• Massari ME, Rivera RR, Voland JR, et al. (1998). "Characterization of ABF-1, a novel basic helix-loop-helix transcription factor expressed in activated B lymphocytes.". Mol. Cell. Biol. 18 (6): 3130–9. PMC 108895. PMID 9584154.
• Adell T, Gómez-Cuadrado A, Skoudy A, et al. (2000). "Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells.". Cell Growth Differ. 11 (3): 137–47. PMID 10768861.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Mandolesi G, Gargano S, Pennuto M, et al. (2002). "NGF-dependent and tissue-specific transcription of vgf is regulated by a CREB-p300 and bHLH factor interaction.". FEBS Lett. 510 (1-2): 50–6. doi:10.1016/S0014-5793(01)03227-6. PMID 11755530.
• Knöfler M, Meinhardt G, Bauer S, et al. (2002). "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains.". Biochem. J. 361 (Pt 3): 641–51. doi:10.1042/0264-6021:3610641. PMC 1222348. PMID 11802795.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Tremblay M, Herblot S, Lecuyer E, Hoang T (2003). "Regulation of pT alpha gene expression by a dosage of E2A, HEB, and SCL.". J. Biol. Chem. 278 (15): 12680–7. doi:10.1074/jbc.M209870200. PMID 12566462.

External links

• FactorBook TCF12