TFAP2B explained

Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.^{[1] [2]}

Function

AP-2 beta is a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor.^[3]

Clinical significance

Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives.^[3]

Further reading

• Tsukada S, Tanaka Y, Maegawa H, etal . Intronic polymorphisms within TFAP2B regulate transcriptional activity and affect adipocytokine gene expression in differentiated adipocytes. . Mol. Endocrinol. . 20 . 5 . 1104–11 . 2006 . 16373396 . 10.1210/me.2005-0311 . free .
• Stelzl U, Worm U, Lalowski M, etal . A human protein-protein interaction network: a resource for annotating the proteome. . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . 11858/00-001M-0000-0010-8592-0 . 8235923 . free .
• Lindgren CM, Heid IM, Randall JC, etal . Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution . PLOS Genet. . 5 . 6 . e1000508 . 2009 . 19557161 . 10.1371/journal.pgen.1000508 . 2695778 . Allison . David B. . free .
• Nordquist N, Göktürk C, Comasco E, etal . The transcription factor TFAP2B is associated with insulin resistance and adiposity in healthy adolescents . Obesity (Silver Spring) . 17 . 9 . 1762–7 . 2009 . 19325541 . 10.1038/oby.2009.83 . 205527800 .
• Prichard ZM, Jorm AF, Mackinnon A, Easteal S . Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits . Psychiatr. Genet. . 17 . 5 . 299–303 . 2007 . 17728669 . 10.1097/YPG.0b013e32816ebc9e . 10358616 . 1885/34438 . free .
• Michelon L, Meira-Lima I, Cordeiro Q, etal . Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and retrospectively scored response to lithium prophylaxis in bipolar disorder . Neurosci. Lett. . 403 . 3 . 288–93 . 2006 . 16787706 . 10.1016/j.neulet.2006.05.001 . 38829920 .
• Fogu G, Bandiera P, Cambosu F, etal . Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies . Eur J Med Genet . 50 . 2 . 103–11 . 2007. 17185054 . 10.1016/j.ejmg.2006.11.002 .
• Hensch T, Wargelius HL, Herold U, etal . Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene . Neurosci. Lett. . 436 . 1 . 67–71 . 2008 . 18358611 . 10.1016/j.neulet.2008.02.062 . 1151572 .
• Khetyar M, Syrris P, Tinworth L, etal . Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus . Genet. Test. . 12 . 3 . 457–9 . 2008 . 18752453 . 10.1089/gte.2008.0015 .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
• Dagle JM, Lepp NT, Cooper ME, etal . Determination of Genetic Predisposition to Patent Ductus Arteriosus in Preterm Infants . Pediatrics . 123 . 4 . 1116–23 . 2009 . 19336370 . 10.1542/peds.2008-0313 . 2734952 .
• Ding X, Fan C, Zhou J, etal . GAS41 interacts with transcription factor AP-2beta and stimulates AP-2beta-mediated transactivation . Nucleic Acids Res. . 34 . 9 . 2570–8 . 2006 . 16698963 . 10.1093/nar/gkl319 . 3303177.
• Eckert D, Buhl S, Weber S, etal . The AP-2 family of transcription factors . Genome Biol. . 6 . 13 . 246 . 2005 . 16420676 . 10.1186/gb-2005-6-13-246 . 1414101 . free .
• Fujimori K, Urade Y . Cooperative activation of lipocalin-type prostaglandin D synthase gene expression by activator protein-2beta in proximal promoter and upstream stimulatory factor 1 within intron 4 in human brain-derived TE671 cells . Gene . 397 . 1–2 . 143–52 . 2007 . 17574780 . 10.1016/j.gene.2007.04.029 .
• Ebauer M, Wachtel M, Niggli FK, Schäfer BW . Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR . Oncogene . 26 . 51 . 7267–81 . 2007 . 17525748 . 10.1038/sj.onc.1210525 . 23874584 .
• Nilsson KW, Damberg M, Ohrvik J, etal . Genes encoding for AP-2beta and the Serotonin Transporter are associated with the Personality Character Spiritual Acceptance . Neurosci. Lett. . 411 . 3 . 233–7 . 2007 . 17123722 . 10.1016/j.neulet.2006.10.051 . 24891530 .
• Ikeda K, Maegawa H, Ugi S, etal . Transcription factor activating enhancer-binding protein-2beta. A negative regulator of adiponectin gene expression . J. Biol. Chem. . 281 . 42 . 31245–53 . 2006 . 16954217 . 10.1074/jbc.M605132200 . free.
• Deng WG, Jayachandran G, Wu G, etal . Tumor-specific activation of human telomerase reverses transcriptase promoter activity by activating enhancer-binding protein-2beta in human lung cancer cells . J. Biol. Chem. . 282 . 36 . 26460–70 . 2007 . 17630431 . 10.1074/jbc.M610579200 . free .
• Nilsson KW, Sjöberg RL, Leppert J, etal . Transcription factor AP-2 beta genotype and psychosocial adversity in relation to adolescent depressive symptomatology . J Neural Transm . 116 . 3 . 363–70 . 2009 . 19184334 . 10.1007/s00702-009-0183-3 . 8439300 .
• Maeda S, Tsukada S, Kanazawa A, etal . Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus . J. Hum. Genet. . 50 . 6 . 283–92 . 2005 . 15940393 . 10.1007/s10038-005-0253-9 . free .

External links

• • GeneReviews/NCBI/NIH/UW entry on Char Syndrome

Notes and References

1. Moser M, Imhof A, Pscherer A, Bauer R, Amselgruber W, Sinowatz F, Hofstädter F, Schüle R, Buettner R . Cloning and characterization of a second AP-2 transcription factor: AP-2 beta . Development . 121 . 9 . 2779–88 . 1 September 1995. 10.1242/dev.121.9.2779 . 7555706 .
2. Williamson JA, Bosher JM, Skinner A, Sheer D, Williams T, Hurst HC . Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors . Genomics . 35 . 1 . 262–4 . July 1996 . 8661133 . 10.1006/geno.1996.0351 . free .
3. Web site: Entrez Gene: transcription factor AP-2 beta (activating enhancer binding protein 2 beta).