Biology:TFAP2B
From HandWiki
Short description: Protein that in humans and is encoded by the TFAP2B gene
 Generic protein structure example |
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]
References
- ↑ "Cloning and characterization of a second AP-2 transcription factor: AP-2 beta". Development 121 (9): 2779–88. 1 September 1995. doi:10.1242/dev.121.9.2779. PMID 7555706.
- ↑ "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. doi:10.1006/geno.1996.0351. PMID 8661133.
- ↑ 3.0 3.1 "Entrez Gene: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7021.
Further reading
- "Intronic polymorphisms within TFAP2B regulate transcriptional activity and affect adipocytokine gene expression in differentiated adipocytes.". Mol. Endocrinol. 20 (5): 1104–11. 2006. doi:10.1210/me.2005-0311. PMID 16373396.
- "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. 2005. doi:10.1016/j.cell.2005.08.029. PMID 16169070. http://edoc.mpg.de/get.epl?fid=21592&did=275687&ver=0.
- Allison, David B., ed (2009). "Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution". PLOS Genet. 5 (6): e1000508. doi:10.1371/journal.pgen.1000508. PMID 19557161.
- "The transcription factor TFAP2B is associated with insulin resistance and adiposity in healthy adolescents". Obesity (Silver Spring) 17 (9): 1762–7. 2009. doi:10.1038/oby.2009.83. PMID 19325541.
- "Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits". Psychiatr. Genet. 17 (5): 299–303. 2007. doi:10.1097/YPG.0b013e32816ebc9e. PMID 17728669.
- "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. doi:10.1016/j.neulet.2006.05.001. PMID 16787706.
- "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. doi:10.1016/j.ejmg.2006.11.002. PMID 17185054.
- "Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene". Neurosci. Lett. 436 (1): 67–71. 2008. doi:10.1016/j.neulet.2008.02.062. PMID 18358611.
- "Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus". Genet. Test. 12 (3): 457–9. 2008. doi:10.1089/gte.2008.0015. PMID 18752453.
- "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "Determination of Genetic Predisposition to Patent Ductus Arteriosus in Preterm Infants". Pediatrics 123 (4): 1116–23. 2009. doi:10.1542/peds.2008-0313. PMID 19336370.
- "GAS41 interacts with transcription factor AP-2beta and stimulates AP-2beta-mediated transactivation". Nucleic Acids Res. 34 (9): 2570–8. 2006. doi:10.1093/nar/gkl319. PMID 16698963.
- "The AP-2 family of transcription factors". Genome Biol. 6 (13): 246. 2005. doi:10.1186/gb-2005-6-13-246. PMID 16420676.
- "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. doi:10.1016/j.gene.2007.04.029. PMID 17574780.
- "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. doi:10.1038/sj.onc.1210525. PMID 17525748.
- "Genes encoding for AP-2beta and the Serotonin Transporter are associated with the Personality Character Spiritual Acceptance". Neurosci. Lett. 411 (3): 233–7. 2007. doi:10.1016/j.neulet.2006.10.051. PMID 17123722.
- "Transcription factor activating enhancer-binding protein-2beta. A negative regulator of adiponectin gene expression". J. Biol. Chem. 281 (42): 31245–53. 2006. doi:10.1074/jbc.M605132200. PMID 16954217.
- "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. doi:10.1074/jbc.M610579200. PMID 17630431.
- "Transcription factor AP-2 beta genotype and psychosocial adversity in relation to adolescent depressive symptomatology". J Neural Transm 116 (3): 363–70. 2009. doi:10.1007/s00702-009-0183-3. PMID 19184334.
- "Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus". J. Hum. Genet. 50 (6): 283–92. 2005. doi:10.1007/s10038-005-0253-9. PMID 15940393.
External links
- TFAP2B+protein,+human at the US 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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