TFAP2B

Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.^[5][6]

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.^[7]

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.^[7]

References

Further reading

• Tsukada S, Tanaka Y, Maegawa H, et al. (2006). "Intronic polymorphisms within TFAP2B regulate transcriptional activity and affect adipocytokine gene expression in differentiated adipocytes". Mol. Endocrinol. 20 (5): 1104–11.
  PMID 16373396
  .
• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68.
  S2CID 8235923
  .
• Lindgren CM, Heid IM, Randall JC, et al. (2009). Allison DB (ed.). "Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution". PLOS Genet. 5 (6): e1000508.
  PMID 19557161
  .
• Nordquist N, Göktürk C, Comasco E, et al. (2009). "The transcription factor TFAP2B is associated with insulin resistance and adiposity in healthy adolescents". Obesity (Silver Spring). 17 (9): 1762–7.
  S2CID 205527800
  .
• Prichard ZM, Jorm AF, Mackinnon A, Easteal S (2007). "Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits". Psychiatr. Genet. 17 (5): 299–303.
  S2CID 10358616
  .
• Michelon L, Meira-Lima I, Cordeiro Q, et al. (2006). "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.
  S2CID 38829920
  .
• Fogu G, Bandiera P, Cambosu F, et al. (2007). "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.
  PMID 17185054
  .
• Hensch T, Wargelius HL, Herold U, et al. (2008). "Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene". Neurosci. Lett. 436 (1): 67–71.
  S2CID 1151572
  .
• Khetyar M, Syrris P, Tinworth L, et al. (2008). "Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus". Genet. Test. 12 (3): 457–9.
  PMID 18752453
  .
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65.
  PMID 16344560
  .
• Dagle JM, Lepp NT, Cooper ME, et al. (2009). "Determination of Genetic Predisposition to Patent Ductus Arteriosus in Preterm Infants". Pediatrics. 123 (4): 1116–23.
  PMID 19336370
  .
• Ding X, Fan C, Zhou J, et al. (2006). "GAS41 interacts with transcription factor AP-2beta and stimulates AP-2beta-mediated transactivation". Nucleic Acids Res. 34 (9): 2570–8.
  PMID 16698963
  .
• Eckert D, Buhl S, Weber S, et al. (2005). "The AP-2 family of transcription factors". Genome Biol. 6 (13): 246.
  PMID 16420676
  .
• Fujimori K, Urade Y (2007). "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.
  PMID 17574780
  .
• Ebauer M, Wachtel M, Niggli FK, Schäfer BW (2007). "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.
  S2CID 23874584
  .
• Nilsson KW, Damberg M, Ohrvik J, et al. (2007). "Genes encoding for AP-2beta and the Serotonin Transporter are associated with the Personality Character Spiritual Acceptance". Neurosci. Lett. 411 (3): 233–7.
  S2CID 24891530
  .
• Ikeda K, Maegawa H, Ugi S, et al. (2006). "Transcription factor activating enhancer-binding protein-2beta. A negative regulator of adiponectin gene expression". J. Biol. Chem. 281 (42): 31245–53.
  PMID 16954217
  .
• Deng WG, Jayachandran G, Wu G, et al. (2007). "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.
  PMID 17630431
  .
• Nilsson KW, Sjöberg RL, Leppert J, et al. (2009). "Transcription factor AP-2 beta genotype and psychosocial adversity in relation to adolescent depressive symptomatology". J Neural Transm. 116 (3): 363–70.
  S2CID 8439300
  .
• Maeda S, Tsukada S, Kanazawa A, et al. (2005). "Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus". J. Hum. Genet. 50 (6): 283–92.
  PMID 15940393
  .

External links

• TFAP2B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• GeneReviews/NCBI/NIH/UW entry on Char Syndrome

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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