Property Summary

NCBI Gene PubMed Count 46
Grant Count 88
R01 Count 52
Funding $10,506,439.25
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 0.016
ependymoma 2.400 0.027
oligodendroglioma 2.800 0.007
glioblastoma multiforme 1.700 0.000
sonic hedgehog group medulloblastoma 2.000 0.000
atypical teratoid/rhabdoid tumor 1.300 0.000
medulloblastoma, large-cell 1.100 0.010
primitive neuroectodermal tumor 1.600 0.000
juvenile dermatomyositis 1.168 0.000
pediatric high grade glioma 2.000 0.000
pilocytic astrocytoma 2.700 0.000
psoriasis -1.100 0.000
Breast cancer -1.400 0.000
ovarian cancer -1.400 0.001
Down syndrome 1.400 0.000

Synonym

Accession Q99081 B4E1W1 Q7Z3D9 Q86TC1 Q86VM2 TCF-12
Symbols HEB
CRS3
HTF4
TCF-12
bHLHb20
HsT17266

Gene

PDB

2KNH   4JOL  

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.
More...

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.
More...