TCF12

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, HH26
External IDs	OMIM: 600480; MGI: 101877; HomoloGene: 40774; GeneCards: TCF12; OMA:TCF12 - orthologs
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 71,749,970 bp [2] End 72,019,153 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in periodontal fiber ventricular zone ganglionic eminence hair follicle epithelium of colon Achilles tendon stromal cell of endometrium corpus callosum optic nerve mucosa of paranasal sinus Top expressed in genital tubercle medial ganglionic eminence dermis abdominal wall tail of embryo maxillary prominence mandibular prominence human fetus conjunctival fornix medullary collecting duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein dimerization activity protein homodimerization activity DNA-binding transcription factor activity HMG box domain binding DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor binding RNA polymerase II cis-regulatory region sequence-specific DNA binding bHLH transcription factor binding E-box binding protein binding protein heterodimerization activity SMAD binding cAMP response element binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm transcription regulator complex RNA polymerase II transcription regulator complex nucleus nuclear speck intracellular membrane-bounded organelle nucleoplasm Biological process cell differentiation regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II 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 by RNA polymerase II transcription by RNA polymerase II 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: 71.75 – 72.02 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. S2CID   1315068.
• 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. doi: 10.1016/S0021-9258(17)32686-8 . 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. S2CID   19320196.
• 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