TCF12 (transcription factor 12)
2003-07-01 Goran Stenman AffiliationLundberg 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.
Implicated in
Entity name
Extraskeletal myxoid chondrosarcoma with t(9;15)(q22;q21).
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9794824 | 1998 | Muscle differentiation: more complexity to the network of myogenic regulators. | Arnold HH et al |
| 8163514 | 1994 | Distinguishable patterns of protein-DNA interactions involving complexes of basic helix-loop-helix proteins. | Doyle K et al |
| 12826747 | 2002 | Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4. | Gan TI et al |
| 1312219 | 1992 | HEB, 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 |
| 9570134 | 1997 | bHLH transcription factors and mammalian neuronal differentiation. | Kageyama R et al |
| 8634690 | 1995 | Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. | Labelle Y et al |
| 10728702 | 2000 | Class 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 |
| 8355705 | 1993 | A 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 |
| 11156374 | 2000 | Fusion 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 |
| 1886779 | 1991 | HTF4: a new human helix-loop-helix protein. | Zhang Y et al |
| 1446075 | 1992 | The nucleotide sequence of the human transcription factor HTF4a cDNA. | Zhang Y et al |
| 7842744 | 1995 | Localization 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
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Developmental Biology | REACTOME | R-HSA-1266738 |
| Myogenesis | REACTOME | R-HSA-525793 |
| CDO in myogenesis | REACTOME | R-HSA-375170 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37680149 | 2024 | Lncrna CASC15 Activated By TCF12 Promote Colorectal Cancer Progression via EMT. | 0 |
| 37680149 | 2024 | Lncrna CASC15 Activated By TCF12 Promote Colorectal Cancer Progression via EMT. | 0 |
| 35994750 | 2023 | Auricles Anomalies in Patients With a TCF12 Gene Mutation. | 0 |
| 36377508 | 2023 | RNA-binding protein DHX9 promotes glioma growth and tumor-associated macrophages infiltration via TCF12. | 13 |
| 36916930 | 2023 | Circular RNA hsa_circ_0002938 (circCRIM1) promotes the progression of esophageal squamous cell carcinoma by upregulating transcription factor 12. | 1 |
| 37067645 | 2023 | Nuclear Tubulin Enhances CXCR4 Transcription and Promotes Chemotaxis Through TCF12 Transcription Factor in human Hematopoietic Stem Cells. | 0 |
| 35994750 | 2023 | Auricles Anomalies in Patients With a TCF12 Gene Mutation. | 0 |
| 36377508 | 2023 | RNA-binding protein DHX9 promotes glioma growth and tumor-associated macrophages infiltration via TCF12. | 13 |
| 36916930 | 2023 | Circular RNA hsa_circ_0002938 (circCRIM1) promotes the progression of esophageal squamous cell carcinoma by upregulating transcription factor 12. | 1 |
| 37067645 | 2023 | Nuclear Tubulin Enhances CXCR4 Transcription and Promotes Chemotaxis Through TCF12 Transcription Factor in human Hematopoietic Stem Cells. | 0 |
| 34121515 | 2022 | miR-218-5p inhibits the malignant progression of glioma via targeting TCF12. | 1 |
| 34424951 | 2022 | Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis. | 1 |
| 34904178 | 2022 | Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis. | 1 |
| 34121515 | 2022 | miR-218-5p inhibits the malignant progression of glioma via targeting TCF12. | 1 |
| 34424951 | 2022 | Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis. | 1 |
Citation
Goran Stenman
TCF12 (transcription factor 12)
Atlas Genet Cytogenet Oncol Haematol. 2003-07-01
Online version: http://atlasgeneticsoncology.org/gene/406
