TCF4
From Wikipedia, the free encyclopedia
For the Transcription factor 7-like 2 gene, also known as TCF4, see TCF7L2.
Transcription factor 4, also known as immunoglobulin transcription factor 2 and TCF4, is a protein acting as a transcription factor. In humans this protein is encoded by the TCF4 gene.[1][2]
Function
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is expressed predominantly in pre-B-cells, although it is found in other tissues as well. Multiple alternatively spliced transcript variants that encode different proteins have been described.[3]
Clinical significance
Mutations of the gene cause Pitt-Hopkins syndrome.[4]
References
- ↑ Breschel TS, McInnis MG, Margolis RL, Sirugo G, Corneliussen B, Simpson SG, McMahon FJ, MacKinnon DF, Xu JF, Pleasant N, Huo Y, Ashworth RG, Grundstrom C, Grundstrom T, Kidd KK, DePaulo JR, Ross CA (October 1997). "A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1". Hum. Mol. Genet. 6 (11): 1855–63. doi:10.1093/hmg/6.11.1855. PMID 9302263.
- ↑ Henthorn P, McCarrick-Walmsley R, Kadesch T (February 1990). "Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor". Nucleic Acids Res. 18 (3): 678. doi:10.1093/nar/18.3.678. PMC 333500. PMID 2308860.
- ↑ "Entrez Gene: TCF4 transcription factor 4".
- ↑ Sepp, M.; Pruunsild, P.; Timmusk, T. (28 March 2012). "Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects". Human Molecular Genetics 21 (13): 2873–2888. doi:10.1093/hmg/dds112.
Further reading
- Herbst A, Helferich S, Behrens A, et al. (2009). "The transcription factor ITF-2A induces cell cycle arrest via p21(Cip1).". Biochem. Biophys. Res. Commun. 387 (4): 736–40. doi:10.1016/j.bbrc.2009.07.102. PMID 19635457.
- de Pontual L, Mathieu Y, Golzio C, et al. (2009). "Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.". Hum. Mutat. 30 (4): 669–76. doi:10.1002/humu.20935. PMID 19235238.
- Cisse B, Caton ML, Lehner M, et al. (2008). "Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development.". Cell 135 (1): 37–48. doi:10.1016/j.cell.2008.09.016. PMC 2631034. PMID 18854153.
- Bain G, Murre C (1998). "The role of E-proteins in B- and T-lymphocyte development.". Semin. Immunol. 10 (2): 143–53. doi:10.1006/smim.1998.0116. PMID 9618760.
- Yerges LM, Klei L, Cauley JA, et al. (2009). "High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.". J. Bone Miner. Res. 24 (12): 2039–49. doi:10.1359/jbmr.090524. PMC 2791518. PMID 19453261.
- , Purcell SM, Wray NR, et al. (2009). "Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.". Nature 460 (7256): 748–52. doi:10.1038/nature08185. PMID 19571811.
- Kalscheuer VM, Feenstra I, Van Ravenswaaij-Arts CM, et al. (2008). "Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.". Am. J. Med. Genet. A 146A (16): 2053–9. doi:10.1002/ajmg.a.32419. PMID 18627065.
- Herbst A, Bommer GT, Kriegl L, et al. (2009). "ITF-2 is disrupted via allelic loss of chromosome 18q21, and ITF-2B expression is lost at the adenoma-carcinoma transition.". Gastroenterology 137 (2): 639–48, 648.e1–9. doi:10.1053/j.gastro.2009.04.049. PMID 19394332.
- Nagasawa M, Schmidlin H, Hazekamp MG, et al. (2008). "Development of human plasmacytoid dendritic cells depends on the combined action of the basic helix-loop-helix factor E2-2 and the Ets factor Spi-B.". Eur. J. Immunol. 38 (9): 2389–400. doi:10.1002/eji.200838470. PMID 18792017.
- Rosenfeld JA, Leppig K, Ballif BC, et al. (2009). "Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.". Genet. Med. 11 (11): 797–805. doi:10.1097/GIM.0b013e3181bd38a9. PMID 19938247.
- Stefansson H, Ophoff RA, Steinberg S, et al. (2009). "Common variants conferring risk of schizophrenia.". Nature 460 (7256): 744–7. doi:10.1038/nature08186. PMC 3077530. PMID 19571808.
External links
- TCF4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- FactorBook TCF4
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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