Property Summary

NCBI Gene PubMed Count 46
PubMed Score 139.26
PubTator Score 99.16

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma 2.600 1.6e-02
ependymoma 2.400 2.7e-02
oligodendroglioma 2.800 6.5e-03
glioblastoma multiforme 1.700 1.3e-24
sonic hedgehog group medulloblastoma 2.000 7.6e-06
atypical teratoid/rhabdoid tumor 1.300 2.9e-04
medulloblastoma, large-cell 1.100 1.0e-02
primitive neuroectodermal tumor 1.600 3.3e-04
juvenile dermatomyositis 1.168 1.4e-11
pediatric high grade glioma 2.000 4.9e-07
pilocytic astrocytoma 2.700 1.0e-10
psoriasis -1.100 4.2e-12
Breast cancer -1.400 3.7e-17
ovarian cancer -1.400 7.0e-04
Down syndrome 1.400 4.2e-04

 OMIM Phenotype (1)

Gene RIF (21)

PMID Text
26671595 Two novel translocations leading to the inactivation of RUNX1 and its partners SIN3A and TCF12 in myeloid leukemia.
26116899 HIV-1 Vpr downregulates the gene expression of TCF12 in human monocyte-derived dendritic cells
26068201 show that these mutations compromise TCF12 transcriptional activity and are associated with a more aggressive tumour type
25271085 Studies suggest that transcription factor 12 (TCF12) should be included in level 2 genetic testing.
24736737 several familial cases of coronal synostosis associated with mutations in TCF12
23812588 In t(8;21) leukemia cells, the two E proteins, HEB and E2A, function as components of the stable AML1-ETO-containing transcription factor complex (AETFC). The AETFC components cooperatively regulate gene expression and contribute to leukemogenesis.
23812588 Within the AETFC complex, AML1-ETO oligomerization is required for a specific interaction between the oligomerized NHR2 domain and a novel NHR2-binding (N2B) motif in E proteins, including HEB and E2A. Disruption of this interaction by point mutations abrogates AML1-ETO-induced hematopoietic stem/progenitor cell self-renewal and leukemogenesis.
23386606 the CD91/IKK/NF-kappaB signaling cascade is involved in secreted HSP90alpha-induced TCF12 expression, leading to E-cadherin down-regulation and enhanced CRC cell migration/invasion
23354436 haploinsufficiency of TCF12 causes coronal synostosis in humans and that severe bilateral coronal synostosis occurs in mice with 50% of the wild-type dosage of both the Tcf12 and Twist1 genes highlights the key role of TCF12 acting with TWIST1.
22130667 TCF12 functioned as a transcriptional repressor of E-cadherin and its overexpression was significantly correlated with the occurrence of CRC metastasis.
21828274 HEB and E2A-bind the SCA motif at regions overlapping SMAD2/3 and FOXH1
20798984 As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.
20483740 T cell development is impaired by Id2, most likely by sequestering HEB, whereas NK cell development is promoted by increasing a pool of CD1a-CD5+ NK cell progenitors, which together with IL-15 differentiate into mature NK cells
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19730683 Observational study of gene-disease association. (HuGE Navigator)
19460752 Knockdown of transcription factor 12 (TCF12; HTF4) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
19043539 The DNA binding profile of the E-protein HEB was grossly rearranged upon expression of AML1/ETO, and the fusion protein was found to co-localize with both AML1 and HEB on many of its regulated targets
18456661 CBFA2T3 interacts with ZNF652 to repress HEB expression, and in addition CBFA2T3 interacts with the HEB protein to inhibit its activator function.
15351717 dHAND/E-protein (E2A, ME2, and ALF1) heterodimers have distinct DNA binding specificities
15333839 study identifes E proteins(HEB, E2A) as AML1-ETO targets whose dysregulation may be important for t(8;21) leukemogenesis, as well as an E protein silencing mechanism that is distinct from that associated with differentiation-inhibitory proteins
12826747 two alternative acceptor sites for mRNA splicing yield two distinguishable transcripts (HTF4a and HTF4b) which differ in their 5' untranslated region but share identical coding sequences.

AA Sequence

MNPQQQRMAAIGTDKELSDLLDFSAMFSPPVNSGKTRPTTLGSSQFSGSGIDERGGTTSWGTSGQPSPSY      1 - 70
DSSRGFTDSPHYSDHLNDSRLGAHEGLSPTPFMNSNLMGKTSERGSFSLYSRDTGLPGCQSSLLRQDLGL     71 - 140
GSPAQLSSSGKPGTAYYSFSATSSRRRPLHDSAALDPLQAKKVRKVPPGLPSSVYAPSPNSDDFNRESPS    141 - 210
YPSPKPPTSMFASTFFMQDGTHNSSDLWSSSNGMSQPGFGGILGTSTSHMSQSSSYGNLHSHDRLSYPPH    211 - 280
SVSPTDINTSLPPMSSFHRGSTSSSPYVAASHTPPINGSDSILGTRGNAAGSSQTGDALGKALASIYSPD    281 - 350
HTSSSFPSNPSTPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLQSRMEDRLDRLDDAIHVLRNHAVG    351 - 420
PSTSLPAGHSDIHSLLGPSHNAPIGSLNSNYGGSSLVASSRSASMVGTHREDSVSLNGNHSVLSSTVTTS    421 - 490
STDLNHKTQENYRGGLQSQSGTVVTTEIKTENKEKDENLHEPPSSDDMKSDDESSQKDIKVSSRGRTSST    491 - 560
NEDEDLNPEQKIEREKERRMANNARERLRVRDINEAFKELGRMCQLHLKSEKPQTKLLILHQAVAVILSL    561 - 630
EQQVRERNLNPKAACLKRREEEKVSAVSAEPPTTLPGTHPGLSETTNPMGHM                      631 - 682
//

Text Mined References (63)

PMID Year Title
26671595 2015 t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.
26068201 2015 TCF12 is mutated in anaplastic oligodendroglioma.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25466284 2014 Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
25416956 2014 A proteome-scale map of the human interactome network.
25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
24736737 2014 Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23812588 2013 A stable transcription factor complex nucleated by oligomeric AML1-ETO controls leukaemogenesis.
23386606 2013 Secreted heat shock protein 90? (HSP90?) induces nuclear factor-?B-mediated TCF12 protein expression to down-regulate E-cadherin and to enhance colorectal cancer cell migration and invasion.
23354436 2013 Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22130667 2012 TCF12 protein functions as transcriptional repressor of E-cadherin, and its overexpression is correlated with metastasis of colorectal cancer.
21828274 2011 HEB and E2A function as SMAD/FOXH1 cofactors.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20798984 2011 A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1.
20483740 2010 Synergy between IL-15 and Id2 promotes the expansion of human NK progenitor cells, which can be counteracted by the E protein HEB required to drive T cell development.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19730683 2009 The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19204326 2009 Structure of the AML1-ETO eTAFH domain-HEB peptide complex and its contribution to AML1-ETO activity.
19043539 2008 AML1/ETO oncoprotein is directed to AML1 binding regions and co-localizes with AML1 and HEB on its targets.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18456661 2008 CBFA2T3-ZNF652 corepressor complex regulates transcription of the E-box gene HEB.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17467953 2007 Nine-amino-acid transactivation domain: establishment and prediction utilities.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16616331 2006 The tetramer structure of the Nervy homology two domain, NHR2, is critical for AML1/ETO's activity.
16582099 2006 The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15351717 2004 Differential cooperation between dHAND and three different E-proteins.
15333839 2004 E protein silencing by the leukemogenic AML1-ETO fusion protein.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14516699 2002 Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening.
12826747 2002 Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4.
12566462 2003 Regulation of pT alpha gene expression by a dosage of E2A, HEB, and SCL.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11802795 2002 Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains.
11755530 2002 NGF-dependent and tissue-specific transcription of vgf is regulated by a CREB-p300 and bHLH factor interaction.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10768861 2000 Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells.
9618760 1998 The role of E-proteins in B- and T-lymphocyte development.
9584154 1998 Characterization of ABF-1, a novel basic helix-loop-helix transcription factor expressed in activated B lymphocytes.
9446597 1998 Identification of a highly conserved module in E proteins required for in vivo helix-loop-helix dimerization.
9242638 1997 Differential interactions of Id proteins with basic-helix-loop-helix transcription factors.
8163514 1994 Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins.
7842744 1995 Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21.
1886779 1991 HTF4: a new human helix-loop-helix protein.
1720355 1991 Nuclear targeting of the transcription factor PTF1 is mediated by a protein subunit that does not bind to the PTF1 cognate sequence.
1501295 1992 Interactions of HTF4 with E-box motifs in the long terminal repeat of human immunodeficiency virus type 1.
1446075 1992 The nucleotide sequence of the human transcription factor HTF4a cDNA.
1312219 1992 HEB, a helix-loop-helix protein related to E2A and ITF2 that can modulate the DNA-binding ability of myogenic regulatory factors.