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
TCF12
LOCATION
15q21.3
LOCUSID
6938
ALIAS
CRS3,HEB,HTF4,HsT17266,TCF-12,bHLHb20,p64
FUSION GENES
Show Gene Fusions

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

TCF3 and TCF4

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
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.

Article 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376801492024Lncrna CASC15 Activated By TCF12 Promote Colorectal Cancer Progression via EMT.0
376801492024Lncrna CASC15 Activated By TCF12 Promote Colorectal Cancer Progression via EMT.0
359947502023Auricles Anomalies in Patients With a TCF12 Gene Mutation.0
363775082023RNA-binding protein DHX9 promotes glioma growth and tumor-associated macrophages infiltration via TCF12.13
369169302023Circular RNA hsa_circ_0002938 (circCRIM1) promotes the progression of esophageal squamous cell carcinoma by upregulating transcription factor 12.1
370676452023Nuclear Tubulin Enhances CXCR4 Transcription and Promotes Chemotaxis Through TCF12 Transcription Factor in human Hematopoietic Stem Cells.0
359947502023Auricles Anomalies in Patients With a TCF12 Gene Mutation.0
363775082023RNA-binding protein DHX9 promotes glioma growth and tumor-associated macrophages infiltration via TCF12.13
369169302023Circular RNA hsa_circ_0002938 (circCRIM1) promotes the progression of esophageal squamous cell carcinoma by upregulating transcription factor 12.1
370676452023Nuclear Tubulin Enhances CXCR4 Transcription and Promotes Chemotaxis Through TCF12 Transcription Factor in human Hematopoietic Stem Cells.0
341215152022miR-218-5p inhibits the malignant progression of glioma via targeting TCF12.1
344249512022Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.1
349041782022Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.1
341215152022miR-218-5p inhibits the malignant progression of glioma via targeting TCF12.1
344249512022Evaluation 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/tcf12-(transcription-factor-12)