TCF12 (transcription factor 12)

2003-07-01   Goran Stenman 

Lundberg Laboratory for Cancer Research, Department of Pathology, Goteborg University, Sahlgrenska University Hospital, SE-413 45 Goteborg, Sweden

Identity

HGNC
LOCATION
15q21.3
LOCUSID
ALIAS
CRS3,HEB,HTF4,HsT17266,TCF-12,bHLHb20,p64
FUSION GENES

DNA/RNA

Description

spans 370 kb; 21 exons.

Transcription

two alternatively spliced transcripts of 4745 bp and 4077 bp.

Proteins

Description

682 aa, 73 kDa; serine rich N-terminus containing a potential leuzine zipper domain; C-terminus containing a bHLH-domain as well as a class A-specific domain.

Expression

ubiquitous

Localisation

nuclear

Function

basic helix-loop-helix (bHLH) transcription factor belonging to the class A family; acts as a general negative regulator of cell proliferation; binds specifically to oligomers of E-box motifs; forms heterodimers with other bHLH proteins of both class A and class B, e.g. E2A, TAL1, myogenin and MyoD; implicated in myogenesis, hematopoiesis and neurogenesis.

Homology

Implicated in

Entity name
Disease
rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage.
Hybrid gene
TCF12-TEC
Fusion protein
N-terminal domain of TCF12 fused to the entire TEC protein; the translocation separates the N-terminal of TCF12 from the bHLH domain as well as from a potential leucine zipper domain; the N-terminal of TCF12 shows no sequence homology to the N-terminals of EWSR1 or TAF2N.

Bibliography

Pubmed IDLast YearTitleAuthors
97948241998Muscle differentiation: more complexity to the network of myogenic regulators.Arnold HH et al
81635141994Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins.Doyle K et al
128267472002Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4.Gan TI et al
13122191992HEB, a helix-loop-helix protein related to E2A and ITF2 that can modulate the DNA-binding ability of myogenic regulatory factors.Hu JS et al
95701341997bHLH transcription factors and mammalian neuronal differentiation.Kageyama R et al
86346901995Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.Labelle Y et al
107287022000Class A helix-loop-helix proteins are positive regulators of several cyclin-dependent kinase inhibitors' promoter activity and negatively affect cell growth.Pagliuca A et al
83557051993A heterodimer of HEB and an E12-related protein interacts with the CD4 enhancer and regulates its activity in T-cell lines.Sawada S et al
111563742000Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).Sjögren H et al
18867791991HTF4: a new human helix-loop-helix protein.Zhang Y et al
14460751992The nucleotide sequence of the human transcription factor HTF4a cDNA.Zhang Y et al
78427441995Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21.Zhang Y et al

Other Information

Locus ID:

NCBI: 6938
MIM: 600480
HGNC: 11623
Ensembl: ENSG00000140262

Variants:

dbSNP: 6938
ClinVar: 6938
TCGA: ENSG00000140262
COSMIC: TCF12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140262ENST00000267811Q99081
ENSG00000140262ENST00000267811A0A024R5T1
ENSG00000140262ENST00000333725Q99081
ENSG00000140262ENST00000333725A0A024R5Z0
ENSG00000140262ENST00000343827Q99081
ENSG00000140262ENST00000438423Q99081
ENSG00000140262ENST00000438423A0A024R5Z0
ENSG00000140262ENST00000537840Q99081
ENSG00000140262ENST00000543579F5GY10
ENSG00000140262ENST00000557843Q99081
ENSG00000140262ENST00000557843A0A024R5T1
ENSG00000140262ENST00000557947H0YNQ5
ENSG00000140262ENST00000559609B4DGI9
ENSG00000140262ENST00000559703H0YNP8
ENSG00000140262ENST00000559710B4DZP2
ENSG00000140262ENST00000560836H3BNF4
ENSG00000140262ENST00000560948H3BRK2
ENSG00000140262ENST00000561152H0YML2

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
MyogenesisREACTOMER-HSA-525793
CDO in myogenesisREACTOMER-HSA-375170

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
153338392004E protein silencing by the leukemogenic AML1-ETO fusion protein.77
233544362013Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
197306832009The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.59
238125882013A stable transcription factor complex nucleated by oligomeric AML1-ETO controls leukaemogenesis.49
238125882013A stable transcription factor complex nucleated by oligomeric AML1-ETO controls leukaemogenesis.49
218282742011HEB and E2A function as SMAD/FOXH1 cofactors.37
221306672012TCF12 protein functions as transcriptional repressor of E-cadherin, and its overexpression is correlated with metastasis of colorectal cancer.35
190435392008AML1/ETO oncoprotein is directed to AML1 binding regions and co-localizes with AML1 and HEB on its targets.33
233866062013Secreted heat shock protein 90α (HSP90α) induces nuclear factor-κB-mediated TCF12 protein expression to down-regulate E-cadherin and to enhance colorectal cancer cell migration and invasion.32

Citation

Goran Stenman

TCF12 (transcription factor 12)

Atlas Genet Cytogenet Oncol Haematol. 2003-07-01

Online version: http://atlasgeneticsoncology.org/gene/406/tcf12