TCF12

Last updated
TCF12
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases TCF12 , CRS3, HEB, HTF4, HsT17266, bHLHb20, TCF-12, transcription factor 12, p64
External IDs OMIM: 600480 MGI: 101877 HomoloGene: 40774 GeneCards: TCF12
Orthologs
SpeciesHumanMouse
Entrez

6938

21406

Ensembl

ENSG00000140262

ENSMUSG00000032228

UniProt

Q99081

Q61286

RefSeq (mRNA)

NM_001253862
NM_001253863
NM_001253864
NM_001253865
NM_011544

RefSeq (protein)

NP_001240791
NP_001240792
NP_001240793
NP_001240794
NP_035674

Location (UCSC) Chr 15: 56.92 – 57.3 Mb Chr 9: 71.84 – 72.11 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor 12 is a protein that in humans is encoded by the TCF12 gene. [5] [6]

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [6] TCF12 has been speculatively related to human male sexuality through a GWAS study indicating association to a related single nucleotide polymorphism. [7] Mutations in this gene have also been associated with cases of coronal craniosynostosis. [8]

TCF12 is the primary heterodimerising partner of TCF21, a tumour suppressor gene and a target of SRY/SOX9 activity. [9]

Related Research Articles

Basic helix–loop–helix Protein structural motif

A basic helix–loop–helix (bHLH) is a protein structural motif that characterizes one of the largest families of dimerizing transcription factors.

Aryl hydrocarbon receptor nuclear translocator

The ARNT gene encodes the aryl hydrocarbon receptor nuclear translocator protein that forms a complex with ligand-bound aryl hydrocarbon receptor (AhR), and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1 (HIF1). A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Three alternatively spliced variants encoding different isoforms have been described for this gene.

Myogenin

Myogenin, is a transcriptional activator encoded by the MYOG gene. Myogenin is a muscle-specific basic-helix-loop-helix (bHLH) transcription factor involved in the coordination of skeletal muscle development or myogenesis and repair. Myogenin is a member of the MyoD family of transcription factors, which also includes MyoD, Myf5, and MRF4.

TCF4

Transcription factor 4 (TCF-4) also known as immunoglobulin transcription factor 2 (ITF-2) is a protein that in humans is encoded by the TCF4 gene located on chromosome 18q21.2.

TCF3

Transcription factor 3, also known as TCF3, is a protein that in humans is encoded by the TCF3 gene. TCF3 has been shown to directly enhance Hes1 expression.

ID2 Protein-coding gene in the species Homo sapiens

DNA-binding protein inhibitor ID-2 is a protein that in humans is encoded by the ID2 gene.

NEUROD1

Neurogenic differentiation 1 (NeuroD1), also called β2, is a transcription factor of the NeuroD-type. It is encoded by the human gene NEUROD1.

ID1

DNA-binding protein inhibitor ID-1 is a protein that in humans is encoded by the ID1 gene.

USF1

Upstream stimulatory factor 1 is a protein that in humans is encoded by the USF1 gene.

ID3 (gene)

DNA-binding protein inhibitor ID-3 is a protein that in humans is encoded by the ID3 gene.

ID4 Protein-coding gene in humans

ID4 is a protein coding gene. In humans, it encodes for the protein known as DNA-binding protein inhibitor ID-4. This protein is known to be involved in the regulation of many cellular processes during both prenatal development and tumorigenesis. This is inclusive of embryonic cellular growth, senescence, cellular differentiation, apoptosis, and as an oncogene in angiogenesis.

ELK3

ETS domain-containing protein Elk-3 is a protein that in humans is encoded by the ELK3 gene.

TCF21 (gene)

Transcription factor 21 (TCF21), also known as pod-1, capsuling, or epicardin, is a protein that in humans is encoded by the TCF21 gene on chromosome 6. It is ubiquitously expressed in many tissues and cell types and highly significantly expressed in lung and placenta. TCF21 is crucial for the development of a number of cell types during embryogenesis of the heart, lung, kidney, and spleen. TCF21 is also deregulated in several types of cancers, and thus known to function as a tumor suppressor. The TCF21 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.

LYL1

Protein lyl-1 is a protein that in humans is encoded by the LYL1 gene.

ARNT2

Aryl hydrocarbon receptor nuclear translocator 2 is a protein that in humans is encoded by the ARNT2 gene.

TFAP4

Transcription factor AP-4 , also known as TFAP4, is a protein which in humans is encoded by the TFAP4 gene.

TWIST2

Twist-related protein 2 is a protein that in humans is encoded by the TWIST2 gene. The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor and shares similarity with another bHLH transcription factor, TWIST1. bHLH transcription factors have been implicated in cell lineage determination and differentiation. It is thought that during osteoblast development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype.

HEYL

Hairy/enhancer-of-split related with YRPW motif-like protein is a protein that in humans is encoded by the HEYL gene.

NHLH1

Helix-loop-helix protein 1 is a protein that in humans is encoded by the NHLH1 gene.

MYF6

Myogenic factor 6 is a protein that in humans is encoded by the MYF6 gene. This gene is also known in the biomedical literature as MRF4 and herculin. MYF6 is a myogenic regulatory factor (MRF) involved in the process known as myogenesis.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000140262 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032228 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ Zhang Y, Babin J, Feldhaus AL, Singh H, Sharp PA, Bina M (August 1991). "HTF4: a new human helix-loop-helix protein". Nucleic Acids Research. 19 (16): 4555. doi:10.1093/nar/19.16.4555. PMC   328652 . PMID   1886779.
  6. 1 2 "Entrez Gene: TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)".
  7. ↑ Ganna A, Verweij KJ, Nivard MG, Maier R, Wedow R, Busch AS, et al. (August 2019). "Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior". Science. 365 (6456): eaat7693. doi:10.1126/science.aat7693. PMC   7082777 . PMID   31467194.
  8. ↑ Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, et al. (March 2013). "Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis". Nature Genetics. 45 (3): 304–7. doi:10.1038/ng.2531. PMC   3647333 . PMID   23354436.
  9. ↑ Bhandari RK, Sadler-Riggleman I, Clement TM, Skinner MK (2011-05-17). "Basic helix-loop-helix transcription factor TCF21 is a downstream target of the male sex determining gene SRY". PLOS ONE. 6 (5): e19935. Bibcode:2011PLoSO...619935B. doi: 10.1371/journal.pone.0019935 . PMC   3101584 . PMID   21637323.

Further reading

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