TCF12: Difference between revisions

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{{Infobox_gene}}
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'''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 Res | volume = 19 | issue = 16 | pages = 4555 |date=Oct 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/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6938| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)
| HGNCid = 11623
| Symbol = TCF12
| AltSymbols =; HEB; HTF4; HsT17266
| OMIM = 600480
| ECnumber =
| Homologene = 40774
| MGIid = 101877
| GeneAtlas_image1 = PBB_GE_TCF12_208986_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003702 |text = RNA polymerase II transcription factor activity}} {{GNF_GO|id=GO:0030528 |text = transcription regulator activity}}
  | Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006357 |text = regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007517 |text = muscle development}} {{GNF_GO|id=GO:0045449 |text = regulation of transcription}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6938
    | Hs_Ensembl = ENSG00000140262
    | Hs_RefseqProtein = NP_003196
    | Hs_RefseqmRNA = NM_003205
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 15
    | Hs_GenLoc_start = 54998125
    | Hs_GenLoc_end = 55368004
    | Hs_Uniprot = Q99081
    | Mm_EntrezGene = 21406
    | Mm_Ensembl = ENSMUSG00000032228
    | Mm_RefseqmRNA = NM_011544
    | Mm_RefseqProtein = NP_035674
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 71644313
    | Mm_GenLoc_end = 71910179
    | Mm_Uniprot = Q3TE72
  }}
}}
'''Transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)''', also known as '''TCF12''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6938| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6938| accessdate = }}</ref>
| summary_text = 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/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6938| accessdate = }}</ref>
}}
}}
Mutations in this gene have been associated to cases of coronal [[craniosynostosis]] (doi: 10.1038/ng.2531)


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Bain G, Murre C |title=The role of E-proteins in B- and T-lymphocyte development. |journal=Semin. Immunol. |volume=10 |issue= 2 |pages= 143-53 |year= 1998 |pmid= 9618760 |doi= 10.1006/smim.1998.0116 }}
*{{cite journal  | vauthors=Bain G, Murre C |title=The role of E-proteins in B- and T-lymphocyte development. |journal=Semin. Immunol. |volume=10 |issue= 2 |pages= 143–53 |year= 1998 |pmid= 9618760 |doi= 10.1006/smim.1998.0116 }}
*{{cite journal  | author=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=Mol. Cell. Biol. |volume=12 |issue= 3 |pages= 1031-42 |year= 1992 |pmid= 1312219 |doi=  }}
*{{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=Mol. Cell. Biol. |volume=12 |issue= 3 |pages= 1031–42 |year= 1992 |pmid= 1312219 |doi= | pmc=369535 }}
*{{cite journal  | author=Zhang Y, Bina M |title=The nucleotide sequence of the human transcription factor HTF4a cDNA. |journal=DNA Seq. |volume=2 |issue= 6 |pages= 397-403 |year= 1992 |pmid= 1446075 |doi=  }}
*{{cite journal  | vauthors=Zhang Y, Bina M |title=The nucleotide sequence of the human transcription factor HTF4a cDNA. |journal=DNA Seq. |volume=2 |issue= 6 |pages= 397–403 |year= 1992 |pmid= 1446075 |doi=10.3109/10425179209020819 }}
*{{cite journal  | author=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=J. Virol. |volume=66 |issue= 9 |pages= 5631-4 |year= 1992 |pmid= 1501295 |doi=  }}
*{{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=J. Virol. |volume=66 |issue= 9 |pages= 5631–4 |year= 1992 |pmid= 1501295 |doi= | pmc=289128 }}
*{{cite journal  | author=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 |year= 1992 |pmid= 1720355 |doi= }}
*{{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 |year= 1992 |pmid= 1720355 |doi=10.1016/0092-8674(91)90371-5 }}
*{{cite journal  | author=Zhang Y, Babin J, Feldhaus AL, ''et al.'' |title=HTF4: a new human helix-loop-helix protein. |journal=Nucleic Acids Res. |volume=19 |issue= 16 |pages= 4555 |year= 1991 |pmid= 1886779 |doi= }}
*{{cite journal   |vauthors=Zhang Y, Flejter WL, Barcroft CL, etal |title=Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21. |journal=Cytogenet. Cell Genet. |volume=68 |issue= 3-4 |pages= 235–8 |year= 1995 |pmid= 7842744 |doi=10.1159/000133921 }}
*{{cite journal | author=Zhang Y, Flejter WL, Barcroft CL, ''et al.'' |title=Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21. |journal=Cytogenet. Cell Genet. |volume=68 |issue= 3-4 |pages= 235-8 |year= 1995 |pmid= 7842744 |doi=  }}
*{{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=J. Biol. Chem. |volume=269 |issue= 16 |pages= 12099–105 |year= 1994 |pmid= 8163514 |doi=  }}
*{{cite journal  | author=Doyle K, Zhang Y, Baer R, Bina M |title=Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins. |journal=J. Biol. Chem. |volume=269 |issue= 16 |pages= 12099-105 |year= 1994 |pmid= 8163514 |doi=  }}
*{{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=J. Biol. Chem. |volume=272 |issue= 32 |pages= 19785–93 |year= 1997 |pmid= 9242638 |doi=10.1074/jbc.272.32.19785 }}
*{{cite journal  | author=Langlands K, Yin X, Anand G, Prochownik EV |title=Differential interactions of Id proteins with basic-helix-loop-helix transcription factors. |journal=J. Biol. Chem. |volume=272 |issue= 32 |pages= 19785-93 |year= 1997 |pmid= 9242638 |doi=  }}
*{{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=J. Biol. Chem. |volume=273 |issue= 5 |pages= 2866–73 |year= 1998 |pmid= 9446597 |doi=10.1074/jbc.273.5.2866 }}
*{{cite journal  | author=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=J. Biol. Chem. |volume=273 |issue= 5 |pages= 2866-73 |year= 1998 |pmid= 9446597 |doi=  }}
*{{cite journal   |vauthors=Massari ME, Rivera RR, Voland JR, etal |title=Characterization of ABF-1, a novel basic helix-loop-helix transcription factor expressed in activated B lymphocytes. |journal=Mol. Cell. Biol. |volume=18 |issue= 6 |pages= 3130–9 |year= 1998 |pmid= 9584154 |doi= | pmc=108895 }}
*{{cite journal | author=Massari ME, Rivera RR, Voland JR, ''et al.'' |title=Characterization of ABF-1, a novel basic helix-loop-helix transcription factor expressed in activated B lymphocytes. |journal=Mol. Cell. Biol. |volume=18 |issue= 6 |pages= 3130-9 |year= 1998 |pmid= 9584154 |doi=  }}
*{{cite journal   |vauthors=Adell T, Gómez-Cuadrado A, Skoudy A, etal |title=Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells. |journal=Cell Growth Differ. |volume=11 |issue= 3 |pages= 137–47 |year= 2000 |pmid= 10768861 |doi=  }}
*{{cite journal | author=Adell T, Gómez-Cuadrado A, Skoudy A, ''et al.'' |title=Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells. |journal=Cell Growth Differ. |volume=11 |issue= 3 |pages= 137-47 |year= 2000 |pmid= 10768861 |doi=  }}
*{{cite journal  | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948 }}
*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
*{{cite journal   |vauthors=Wiemann S, Weil B, Wellenreuther R, etal |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R  | pmc=311072 }}
*{{cite journal | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422-35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701 }}
*{{cite journal   |vauthors=Simpson JC, Wellenreuther R, Poustka A, etal |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732 }}
*{{cite journal | author=Simpson JC, Wellenreuther R, Poustka A, ''et al.'' |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287-92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 }}
*{{cite journal   |vauthors=Mandolesi G, Gargano S, Pennuto M, etal |title=NGF-dependent and tissue-specific transcription of vgf is regulated by a CREB-p300 and bHLH factor interaction. |journal=FEBS Lett. |volume=510 |issue= 1-2 |pages= 50–6 |year= 2002 |pmid= 11755530 |doi=10.1016/S0014-5793(01)03227-6 }}
*{{cite journal | author=Mandolesi G, Gargano S, Pennuto M, ''et al.'' |title=NGF-dependent and tissue-specific transcription of vgf is regulated by a CREB-p300 and bHLH factor interaction. |journal=FEBS Lett. |volume=510 |issue= 1-2 |pages= 50-6 |year= 2002 |pmid= 11755530 |doi=  }}
*{{cite journal   |vauthors=Knöfler M, Meinhardt G, Bauer S, etal |title=Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains. |journal=Biochem. J. |volume=361 |issue= Pt 3 |pages= 641–51 |year= 2002 |pmid= 11802795 |doi=10.1042/0264-6021:3610641  | pmc=1222348 }}
*{{cite journal | author=Knöfler M, Meinhardt G, Bauer S, ''et al.'' |title=Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains. |journal=Biochem. J. |volume=361 |issue= Pt 3 |pages= 641-51 |year= 2002 |pmid= 11802795 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{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=J. Biol. Chem. |volume=278 |issue= 15 |pages= 12680–7 |year= 2003 |pmid= 12566462 |doi= 10.1074/jbc.M209870200 }}
*{{cite journal  | author=Tremblay M, Herblot S, Lecuyer E, Hoang T |title=Regulation of pT alpha gene expression by a dosage of E2A, HEB, and SCL. |journal=J. Biol. Chem. |volume=278 |issue= 15 |pages= 12680-7 |year= 2003 |pmid= 12566462 |doi= 10.1074/jbc.M209870200 }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* {{FactorBook|TCF12}}
 
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Latest revision as of 11:41, 15 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ 2.0 2.1 "Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)".

Further reading

External links



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