TCF12

Transcription factor 12 is a protein that in humans is encoded by the TCF12 gene.[5][6]

TCF12
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KNH, 4JOL
Identifiers
Aliases	TCF12, CRS3, HEB, HTF4, HsT17266, bHLHb20, TCF-12, transcription factor 12, p64
External IDs	OMIM: 600480 MGI: 101877 HomoloGene: 40774 GeneCards: TCF12
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q21.3 Start 56,918,623 bp[1] End 57,299,281 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 D|9 39.85 cM Start 71,842,688 bp[2] End 72,111,871 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • protein dimerization activity • protein homodimerization activity • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • HMG box domain binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • transcription factor binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • bHLH transcription factor binding • E-box binding • GO:0001948 protein binding • protein heterodimerization activity • SMAD binding • cAMP response element binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cytoplasm • transcription regulator complex • RNA polymerase II transcription factor complex • nuclear chromatin • cell nucleus • nuclear speck • intracellular membrane-bounded organelle • nucleoplasm Biological process • cell differentiation • regulation of transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter • muscle organ development • transcription, DNA-templated • nervous system development • multicellular organism development • positive regulation of transcription, DNA-templated • positive regulation of gene expression • positive regulation of neuron differentiation • immune response • positive regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • regulation of hematopoietic stem cell differentiation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6938	21406
Ensembl	ENSG00000140262	ENSMUSG00000032228
UniProt	Q99081	Q61286
RefSeq (mRNA)	NM_001306219 NM_001306220 NM_003205 NM_207036 NM_207037 NM_207038 NM_207040 NM_001322151 NM_001322152 NM_001322154 NM_001322156 NM_001322157 NM_001322158 NM_001322159 NM_001322161 NM_001322162 NM_001322164 NM_001322165	NM_001253862 NM_001253863 NM_001253864 NM_001253865 NM_011544
RefSeq (protein)	NP_001293148 NP_001293149 NP_001309080 NP_001309081 NP_001309083 NP_001309085 NP_001309086 NP_001309087 NP_001309088 NP_001309090 NP_001309091 NP_001309093 NP_001309094 NP_003196 NP_996919 NP_996920 NP_996921 NP_996923	NP_001240791 NP_001240792 NP_001240793 NP_001240794 NP_035674
Location (UCSC)	Chr 15: 56.92 – 57.3 Mb	Chr 9: 71.84 – 72.11 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6] TCF12 has been speculatively related to human male sexuality through a GWAS study indicating association to a related single nucleotide polymorphism.[7] Mutations in this gene have also been associated with cases of coronal craniosynostosis.[8]

TCF12 is the primary heterodimerising partner of TCF21, a tumour suppressor gene and a target of SRY/SOX9 activity.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000140262 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032228 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M (August 1991). "HTF4: a new human helix-loop-helix protein". Nucleic Acids Research. 19 (16): 4555. doi:10.1093/nar/19.16.4555. PMC 328652. PMID 1886779.
6. "Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)".
7. Ganna A, Verweij KJ, Nivard MG, Maier R, Wedow R, Busch AS, et al. (August 2019). "Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior". Science. 365 (6456): eaat7693. doi:10.1126/science.aat7693. PMC 7082777. PMID 31467194.
8. Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, et al. (March 2013). "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. doi:10.1038/ng.2531. PMC 3647333. PMID 23354436.
9. Bhandari RK, Sadler-Riggleman I, Clement TM, Skinner MK (2011-05-17). "Basic helix-loop-helix transcription factor TCF21 is a downstream target of the male sex determining gene SRY". PLOS ONE. 6 (5): e19935. Bibcode:2011PLoSO...619935B. doi:10.1371/journal.pone.0019935. PMC 3101584. PMID 21637323.

Further reading

• Bain G, Murre C (April 1998). "The role of E-proteins in B- and T-lymphocyte development". Seminars in Immunology. 10 (2): 143–53. doi:10.1006/smim.1998.0116. PMID 9618760.
• Hu JS, Olson EN, Kingston RE (March 1992). "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. doi:10.1128/MCB.12.3.1031. PMC 369535. PMID 1312219.
• Zhang Y, Bina M (1992). "The nucleotide sequence of the human transcription factor HTF4a cDNA". DNA Sequence. 2 (6): 397–403. doi:10.3109/10425179209020819. PMID 1446075.
• Zhang Y, Doyle K, Bina M (September 1992). "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. doi:10.1128/JVI.66.9.5631-5634.1992. PMC 289128. PMID 1501295.
• Sommer L, Hagenbüchle O, Wellauer PK, Strubin M (November 1991). "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, Rivière M, Szpirer J, Szpirer C, Bina M (1995). "Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21". Cytogenetics and Cell Genetics. 68 (3–4): 235–8. doi:10.1159/000133921. PMID 7842744.
• Doyle K, Zhang Y, Baer R, Bina M (April 1994). "Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins". The Journal of Biological Chemistry. 269 (16): 12099–105. PMID 8163514.
• Langlands K, Yin X, Anand G, Prochownik EV (August 1997). "Differential interactions of Id proteins with basic-helix-loop-helix transcription factors". The Journal of Biological Chemistry. 272 (32): 19785–93. doi:10.1074/jbc.272.32.19785. PMID 9242638.
• Goldfarb AN, Lewandowska K, Pennell CA (January 1998). "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. doi:10.1074/jbc.273.5.2866. PMID 9446597.
• Massari ME, Rivera RR, Voland JR, Quong MW, Breit TM, van Dongen JJ, et al. (June 1998). "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. doi:10.1128/mcb.18.6.3130. PMC 108895. PMID 9584154.
• Adell T, Gómez-Cuadrado A, Skoudy A, Pettengill OS, Longnecker DS, Real FX (March 2000). "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. PMID 10768861.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "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. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Mandolesi G, Gargano S, Pennuto M, Illi B, Molfetta R, Soucek L, et al. (January 2002). "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. doi:10.1016/S0014-5793(01)03227-6. PMID 11755530.
• Knöfler M, Meinhardt G, Bauer S, Loregger T, Vasicek R, Bloor DJ, et al. (February 2002). "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. doi:10.1042/0264-6021:3610641. PMC 1222348. PMID 11802795.
• Tremblay M, Herblot S, Lecuyer E, Hoang T (April 2003). "Regulation of pT alpha gene expression by a dosage of E2A, HEB, and SCL". The Journal of Biological Chemistry. 278 (15): 12680–7. doi:10.1074/jbc.M209870200. PMID 12566462.

External links

• FactorBook TCF12