TFAP2B

Summary

Gene Symbol: TFAP2B
Description: transcription factor AP-2 beta
Alias: AP-2B, AP2-B, PDA2, transcription factor AP-2-beta, AP2-beta, activating enhancer binding protein 2 beta
Species: human
Products:     TFAP2B

Top Publications

  1. Jonsson E, Damberg M, Forslund K, Mattila Evenden M, Rylander G, Asberg M, et al. No association between a transcription factor Activating Protein 2beta (AP-2beta) gene variant and schizophrenia. Neurosci Lett. 2002;330:290-2 pubmed
    ..We conclude that the investigated AP-2beta variant is not of major importance to schizophrenia in the investigated Swedish population. ..
  2. Michelon L, Meira Lima I, Cordeiro Q, Miguita K, Breen G, Collier D, et al. Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder. Neurosci Lett. 2006;403:288-93 pubmed
    ..However, it is still possible that a subgroup of a diverse ethnic ancestry may be predisposing to some of those variants for lithium response. ..
  3. Lindgren C, Heid I, Randall J, Lamina C, Steinthorsdottir V, Qi L, et al. Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet. 2009;5:e1000508 pubmed publisher
    ..of 70,689 individuals identified two loci strongly associated with measures of central adiposity; these map near TFAP2B (WC, P = 1.9x10(-11)) and MSRA (WC, P = 8.9x10(-9))...
  4. Duan C, Clemmons D. Transcription factor AP-2 regulates human insulin-like growth factor binding protein-5 gene expression. J Biol Chem. 1995;270:24844-51 pubmed
    ..This AP-2-mediated trans-activation contributes at least in part to the constitutively high expression of IGFBP-5 in fibroblasts and to the cAMP responsiveness of this gene. ..
  5. Eckert D, Buhl S, Weber S, Jäger R, Schorle H. The AP-2 family of transcription factors. Genome Biol. 2005;6:246 pubmed
    ..The general functions of the family appear to be the cell-type-specific stimulation of proliferation and the suppression of terminal differentiation during embryonic development. ..
  6. Nordquist N, Gokturk C, Comasco E, Eensoo D, Merenäkk L, Veidebaum T, et al. The transcription factor TFAP2B is associated with insulin resistance and adiposity in healthy adolescents. Obesity (Silver Spring). 2009;17:1762-7 pubmed publisher
    ..A transcription factor, TFAP2B, has been shown to participate in the regulation of adipocyte metabolism, by facilitating glucose uptake and lipid ..
  7. Eloranta J, Hurst H. Transcription factor AP-2 interacts with the SUMO-conjugating enzyme UBC9 and is sumolated in vivo. J Biol Chem. 2002;277:30798-804 pubmed
    ..Transient transfection studies indicate that sumolation of AP-2 decreases its transcription activation potential, and we discuss the possible mechanisms for the observed suppression of AP-2 transactivation. ..
  8. Zhao F, Weismann C, Satoda M, Pierpont M, Sweeney E, Thompson E, et al. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. Am J Hum Genet. 2001;69:695-703 pubmed
    To elucidate further the role, in normal development and in disease pathogenesis, of TFAP2B, a transcription factor expressed in neuroectoderm, we studied eight patients with Char syndrome and their families...
  9. Moser M, Imhof A, Pscherer A, Bauer R, Amselgruber W, Sinowatz F, et al. Cloning and characterization of a second AP-2 transcription factor: AP-2 beta. Development. 1995;121:2779-88 pubmed
    ..In summary, our analyses of embryonic and adult mice demonstrate that two different AP-2 transcription factors are specifically expressed during differentiation of many neural, epidermal and urogenital tissues. ..

More Information

Publications95

  1. Satoda M, Zhao F, Diaz G, Burn J, Goodship J, Davidson H, et al. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet. 2000;25:42-6 pubmed
    ..Using a positional candidacy strategy, we mapped TFAP2B, encoding a transcription factor expressed in neural crest cells, to the Char syndrome critical region and ..
  2. Ugi S, Nishio Y, Yamamoto H, Ikeda K, Kobayashi M, Tsukada S, et al. Relation of the expression of transcriptional factor TFAP2B to that of adipokines in subcutaneous and omental adipose tissues. Obesity (Silver Spring). 2010;18:1277-82 pubmed publisher
    To determine the potential role of the transcriptional factor-activating enhancer-binding protein-2beta (TFAP2B) in the regulation of expression of adipokines, adiponectin, leptin, and interleukin-6 (IL-6) in vivo, we quantified the mRNA ..
  3. Moser M, Pscherer A, Roth C, Becker J, Mücher G, Zerres K, et al. Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta. Genes Dev. 1997;11:1938-48 pubmed
    ..Sequence analyses of ARPKD patients and linkage analyses using intragenic polymorphic markers indicate that the AP-2beta gene is located in close proximity to but distinct from the ARPKD gene. ..
  4. Deng W, Jayachandran G, Wu G, Xu K, Roth J, Ji L. Tumor-specific activation of human telomerase reverses transcriptase promoter activity by activating enhancer-binding protein-2beta in human lung cancer cells. J Biol Chem. 2007;282:26460-70 pubmed
    ..Our results demonstrate the tumor-specific activation of the hTERT promoter by AP-2beta and imply the potential of AP-2beta as a novel tumor marker or a cancer therapeutic target. ..
  5. Ikeda K, Maegawa H, Ugi S, Tao Y, Nishio Y, Tsukada S, et al. Transcription factor activating enhancer-binding protein-2beta. A negative regulator of adiponectin gene expression. J Biol Chem. 2006;281:31245-53 pubmed
    ..We conclude that AP-2beta might modulate the expression of adiponectin by directly inhibiting its transcriptional activity. ..
  6. Braganca J, Eloranta J, Bamforth S, Ibbitt J, Hurst H, Bhattacharya S. Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2. J Biol Chem. 2003;278:16021-9 pubmed
    ..Our results suggest a model wherein interactions among TFAP2A, CITED2, and p300/CBP are necessary for TFAP2A-mediated transcriptional activation and for normal neural tube and cardiac development. ..
  7. Braganca J, Swingler T, Marques F, Jones T, Eloranta J, Hurst H, et al. Human CREB-binding protein/p300-interacting transactivator with ED-rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2. J Biol Chem. 2002;277:8559-65 pubmed
    ..They also suggest the existence of cell type- and TFAP2 isoform-specific co-activation by CITED2 and CITED4, which may result in differential modulation of TFAP2 function. ..
  8. Gaubatz S, Imhof A, Dosch R, Werner O, Mitchell P, Buettner R, et al. Transcriptional activation by Myc is under negative control by the transcription factor AP-2. EMBO J. 1995;14:1508-19 pubmed
    ..Taken together, our data suggest that AP-2 acts as a negative regulator of transactivation by Myc. ..
  9. Khetyar M, Syrris P, Tinworth L, Abushaban L, Carter N. Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus. Genet Test. 2008;12:457-9 pubmed publisher
    Mutations in the gene encoding the TFAP2B transcription factor can cause Char syndrome with cardiac, craniofacial, and hand abnormalities...
  10. Tsukada S, Tanaka Y, Maegawa H, Kashiwagi A, Kawamori R, Maeda S. Intronic polymorphisms within TFAP2B regulate transcriptional activity and affect adipocytokine gene expression in differentiated adipocytes. Mol Endocrinol. 2006;20:1104-11 pubmed
    We have identified a gene encoding transcription factor activating enhancer binding protein-2beta (TFAP2B) as a candidate for conferring susceptibility to type 2 diabetes...
  11. Maeda S, Tsukada S, Kanazawa A, Sekine A, Tsunoda T, Koya D, et al. Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. J Hum Genet. 2005;50:283-92 pubmed
    ..and found evidence that the gene at chromosome 6p12 encoding transcription-factor-activating protein 2beta (TFAP2B) was a likely candidate in view of significant association of polymorphism in this gene with type 2 diabetes...
  12. Mani A, Radhakrishnan J, Farhi A, Carew K, Warnes C, Nelson Williams C, et al. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci U S A. 2005;102:2975-9 pubmed
    ..A syndromic form of this disorder, Char syndrome, is caused by mutation in TFAP2B, the gene encoding a neural crest-derived transcription factor...
  13. Massaad E, Tfayli H, Awwad J, Nabulsi M, Farra C. Char Syndrome a novel mutation and new insights: A clinical report. Eur J Med Genet. 2018;: pubmed publisher
    Transcription Factor AP-2 Beta (TFAP2B) functions in the differentiation of neural crest cell derivatives and contributes to the embryogenesis of the ductus arteriosus. Mutations of TFAP2B produces Char syndrome...
  14. Jin K, Jiang H, Xiao D, Zou M, Zhu J, Xiang M. Tfap2a and 2b act downstream of Ptf1a to promote amacrine cell differentiation during retinogenesis. Mol Brain. 2015;8:28 pubmed publisher
    ..through combined bioinformatic, molecular and genetic approaches in mouse retinas, we identify the Tfap2a and Tfap2b transcription factors as two major downstream effectors of Ptf1a...
  15. Wen W, Cho Y, Zheng W, Dorajoo R, Kato N, Qi L, et al. Meta-analysis identifies common variants associated with body mass index in east Asians. Nat Genet. 2012;44:307-11 pubmed publisher
    ..nearly reached the genome-wide significance threshold, including two previously identified loci in the GNPDA2 and TFAP2B genes and a newly identified signal near PAX6, all of which were associated with BMI with P < 5.0 × 10(-7)...
  16. Szot J, Cuny H, Blue G, Humphreys D, Ip E, Harrison K, et al. A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circ Genom Precis Med. 2018;11:e001978 pubmed publisher
    ..In 3 families (10%), we found pathogenic variants in known CHD genes TBX5, TFAP2B, and PTPN11, explaining the cardiac lesions...
  17. Wang J, Ji W, Zhu D, Wang W, Chen Y, Zhang Z, et al. Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation. J Surg Res. 2018;227:178-185 pubmed publisher
    Transcription factor TFAP2B is associated with Char syndrome in humans and is characterized by patent ductus arteriosus (PDA) and facial and finger abnormalities. In a previous study, we detected a c...
  18. Williams M, Almén M, Fredriksson R, Schioth H. What model organisms and interactomics can reveal about the genetics of human obesity. Cell Mol Life Sci. 2012;69:3819-34 pubmed publisher
    ..gnpda2, hmgcr, map2k5, nudt3, prkd1, qpctl, tnni3k, mtch2, dnajc27, slc39a8, mtif3, rpl27a, sec16b, etv5, hmga1, tfap2b, tub, znf608, faim2, kctd15, lingo2, poc5, ptbp2, tmem18, tmem160)...
  19. Graff M, North K, Richardson A, Young K, Mazul A, Highland H, et al. BMI loci and longitudinal BMI from adolescence to young adulthood in an ethnically diverse cohort. Int J Obes (Lond). 2017;41:759-768 pubmed publisher
    ..We found SNPs in/near FTO, MC4R, MTCH2, TFAP2B, SEC16B and TMEM18 were significantly associated (P<0.0015≈0...
  20. Pellikainen J, Ropponen K, Kataja V, Kellokoski J, Eskelinen M, Kosma V. Expression of matrix metalloproteinase (MMP)-2 and MMP-9 in breast cancer with a special reference to activator protein-2, HER2, and prognosis. Clin Cancer Res. 2004;10:7621-8 pubmed
    ..Evaluation of MMP-9 expression seems to add valuable information on breast cancer prognosis. ..
  21. Kraja A, Chasman D, North K, Reiner A, Yanek L, Kilpeläinen T, et al. Pleiotropic genes for metabolic syndrome and inflammation. Mol Genet Metab. 2014;112:317-38 pubmed publisher
    ..They map to genes MACF1, KIAA0754, GCKR, GRB14, COBLL1, LOC646736-IRS1, SLC39A8, NELFE, SKIV2L, STK19, TFAP2B, BAZ1B, BCL7B, TBL2, MLXIPL, LPL, TRIB1, ATXN2, HECTD4, PTPN11, ZNF664, PDXDC1, FTO, MC4R and TOMM40...
  22. Lim U, Ernst T, Wilkens L, Albright C, Lum Jones A, Seifried A, et al. Susceptibility variants for waist size in relation to abdominal, visceral, and hepatic adiposity in postmenopausal women. J Acad Nutr Diet. 2012;112:1048-55 pubmed publisher
    ..between imaging-based abdominal fat mass and waist-size risk variants in the FTO, LEPR, LYPLAL1, MSRA, NRXN3, and TFAP2B genes was investigated...
  23. Zhou J, Qiao X, Xiao L, Sun W, Wang L, Li H, et al. Identification and characterization of the novel protein CCDC106 that interacts with p53 and promotes its degradation. FEBS Lett. 2010;584:1085-90 pubmed publisher
    ..The in vivo interaction between CCDC106 and p53 was confirmed by a co-immunoprecipitation assay. Furthermore, we demonstrated that CCDC106 promotes the degradation of p53 protein and inhibits its transactivity. ..
  24. Stocks T, Angquist L, Banasik K, Harder M, Taylor M, Hager J, et al. TFAP2B influences the effect of dietary fat on weight loss under energy restriction. PLoS ONE. 2012;7:e43212 pubmed publisher
    ..In the replication study, it was -23/-12 among those reducing fat% more/less than the median. TFAP2B-rs987237 genotype AA was associated with 1.0 kg (95% CI, 0.4; 1...
  25. Li X, Glubrecht D, Godbout R. AP2 transcription factor induces apoptosis in retinoblastoma cells. Genes Chromosomes Cancer. 2010;49:819-30 pubmed publisher
    ..Here, we show that TFAP2A and TFAP2B, which map to chromosome arm 6p, are expressed in the amacrine and horizontal cells of human retina...
  26. Kantaputra P, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, et al. Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. Eur J Med Genet. 2017;60:695-700 pubmed publisher
    ..known hypodontia-associated genes including WNT10A, MSX1, EDA, EDAR, EDARADD, PAX9, AXIN2, GREM2, NEMO, KRT17, and TFAP2B. In situ hybridization during tooth development showed Wnt7a expression in wild-type tooth epithelium at E14.5...
  27. Wang H, Hinney A, Song J, Scherag A, Meng X, Grallert H, et al. Association of common variants identified by recent genome-wide association studies with obesity in Chinese children: a case-control study. BMC Med Genet. 2016;17:7 pubmed publisher
    ..We identified obesity association for 6 SNPs near SEC16B, RBJ, CDKAL1, TFAP2B, MAP2K5 and FTO (odds ratios (ORs) ranged from 1.19 to 1.41, nominal two-sided P-values < 0.05)...
  28. Tomei S, Mamtani R, Al Ali R, Elkum N, Abdulmalik M, Ismail A, et al. Obesity susceptibility loci in Qataris, a highly consanguineous Arabian population. J Transl Med. 2015;13:119 pubmed publisher
    ..Two loci significantly associated with obesity in Qataris: the TFAP2B variation (rs987237) (A allele versus G allele: chi-square = 10.3; P = 0...
  29. Felix J, Bradfield J, Monnereau C, van der Valk R, Stergiakouli E, Chesi A, et al. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Hum Mol Genet. 2016;25:389-403 pubmed publisher
    ..analysis, of which 12 are previously identified loci in or close to ADCY3, GNPDA2, TMEM18, SEC16B, FAIM2, FTO, TFAP2B, TNNI3K, MC4R, GPR61, LMX1B and OLFM4 associated with adult body mass index or childhood obesity...
  30. Whetstine J, Witt T, Matherly L. The human reduced folate carrier gene is regulated by the AP2 and sp1 transcription factor families and a functional 61-base pair polymorphism. J Biol Chem. 2002;277:43873-80 pubmed
    ..Moreover, they document a functionally novel polymorphism that increases promoter activity and may contribute to interpatient variations in hRFC expression and effects on tissue folate homeostasis and antitumor response to antifolates. ..
  31. Nordquist N, Gokturk C, Comasco E, Nilsson K, Oreland L, Hallman J. Transcription factor AP2 beta involved in severe female alcoholism. Brain Res. 2009;1305 Suppl:S20-6 pubmed publisher
    ..The transcription factor TFAP2b has repeatedly been shown to be involved in monoaminergic transmission, likely due to a regulatory effect on genes ..
  32. Damberg M, Westberg L, Berggard C, Landen M, Sundblad C, Eriksson O, et al. Investigation of transcription factor AP-2 beta genotype in women with premenstrual dysphoric disorder. Neurosci Lett. 2005;377:49-52 pubmed
    ..To our knowledge, this is the first study investigating transcription factor AP-2beta genotype in women with PMDD. Hence, these results should be considered preliminary until replicated. ..
  33. Yoldi G, Pellegrini P, Trinidad E, Cordero A, Gomez Miragaya J, Serra Musach J, et al. RANK Signaling Blockade Reduces Breast Cancer Recurrence by Inducing Tumor Cell Differentiation. Cancer Res. 2016;76:5857-5869 pubmed
    ..In addition, we found that expression of TFAP2B and the RANK inhibitor, OPG, in human breast cancer correlate and are associated with relapse-free tumors...
  34. Rempel E, Hoelting L, Waldmann T, Balmer N, Schildknecht S, Grinberg M, et al. A transcriptome-based classifier to identify developmental toxicants by stem cell testing: design, validation and optimization for histone deacetylase inhibitors. Arch Toxicol. 2015;89:1599-618 pubmed publisher
    ..Finally, optimization of the classifier based on 100 probe sets showed that eight genes (F2RL2, TFAP2B, EDNRA, FOXD3, SIX3, MT1E, ETS1 and LHX2) are sufficient to separate HDACi from mercurials...
  35. Bandstein M, Voisin S, Nilsson E, Schultes B, Ernst B, Thurnheer M, et al. A Genetic Risk Score Is Associated with Weight Loss Following Roux-en Y Gastric Bypass Surgery. Obes Surg. 2016;26:2183-2189 pubmed publisher
    ..P = 0.021) composed of seven BMI-associated SNPs (closest genes: MC4R, TMEM160, PTBP2, NUDT3, TFAP2B, ZNF608, MAP2K5, GNPDA2, and MTCH2) and of three WHR-associated SNPs (closest genes: HOXC13, LYPLAL1, and DNM3-..
  36. Seberg H, Van Otterloo E, Loftus S, Liu H, Bonde G, Sompallae R, et al. TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF. PLoS Genet. 2017;13:e1006636 pubmed publisher
    ..Paralogs Tfap2a and Tfap2b are both expressed in mouse melanocytes, and we show that mouse embryos with Wnt1-Cre-mediated deletion of Tfap2a ..
  37. Damberg M, Berggard C, Farde L, Sedvall G, Jönsson E. Transcription factor AP-2beta genotype, striatal dopamine D2 receptor density and cerebrospinal fluid monoamine metabolite concentrations in humans. J Neural Transm (Vienna). 2004;111:537-45 pubmed
    ..However, AP-2beta genotype was associated with CSF-levels of HVA (in women) and MHPG. These data may suggest a functional involvement of AP-2beta in the dopaminergic system, but should be interpreted with caution until replicated. ..
  38. Chen L, Martino V, Dombkowski A, Williams T, WEST MAYS J, Gage P. AP-2β Is a Downstream Effector of PITX2 Required to Specify Endothelium and Establish Angiogenic Privilege During Corneal Development. Invest Ophthalmol Vis Sci. 2016;57:1072-81 pubmed publisher
    ..Quantitative RT-PCR and immunohistochemistry was used to further validate Tfap2b expression differences in Pitx2 knockout versus control corneas...
  39. Wu H, Zhang J. Decreased expression of TFAP2B in endometrial cancer predicts poor prognosis: A study based on TCGA data. Gynecol Oncol. 2018;149:592-597 pubmed publisher
    ..We evaluated the role of TFAP2B in ECs using publicly available data from The Cancer Genome Atlas (TCGA)...
  40. Nilsson K, Sjoberg R, Leppert J, Oreland L, Damberg M. Transcription factor AP-2 beta genotype and psychosocial adversity in relation to adolescent depressive symptomatology. J Neural Transm (Vienna). 2009;116:363-70 pubmed publisher
    ..Amongst carriers of one or two copies of the long allele, there was no difference in depressive symptoms despite differences in psychosocial environments. ..
  41. Homayounfar N, Park S, Afsharinejad Z, Bammler T, MacDonald J, Farin F, et al. Transcriptional analysis of human cranial compartments with different embryonic origins. Arch Oral Biol. 2015;60:1450-60 pubmed publisher
    ..TFAP2A, TFAP2B, ICAM1, SULF1, TNC and FOXF2 were among differentially expressed genes...
  42. Kitchen M, Bryan R, Emes R, Glossop J, Luscombe C, Cheng K, et al. Quantitative genome-wide methylation analysis of high-grade non-muscle invasive bladder cancer. Epigenetics. 2016;11:237-46 pubmed publisher
    ..increases in mean levels of methylation in high-grade tumors for the ATP5G2, VAX2, INSRR, PRDM14, VSX1, TFAP2b, PRRX1, and HIST1H4F genes (P<0.05)...
  43. 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. 2007;397:143-52 pubmed
    ..These results indicate that L-PGDS gene expression in TE671 cells was activated by USF1 through the aE-box within intron 4 and cooperatively by AP-2beta in the promoter in a cell-type-specific manner. ..
  44. Paternoster L, Evans D, Nohr E, Holst C, Gaborieau V, Brennan P, et al. Genome-wide population-based association study of extremely overweight young adults--the GOYA study. PLoS ONE. 2011;6:e24303 pubmed publisher
    ..We also found strong evidence of association at the known TMEM18, GNPDA2, SEC16B, TFAP2B, SH2B1 and KCTD15 loci (p<0.001), and nominal association (p<0...
  45. Bagshaw A, Horwood L, Fergusson D, Gemmell N, Kennedy M. Microsatellite polymorphisms associated with human behavioural and psychological phenotypes including a gene-environment interaction. BMC Med Genet. 2017;18:12 pubmed publisher
    ..However, previous evidence that mothers who smoke during pregnancy carry genes for antisocial behaviour suggests that epistasis may influence the interaction. ..
  46. Damberg M, Berggard C, Mattila Evenden M, Rylander G, Forslund K, Garpenstrand H, et al. Transcription factor AP-2beta genotype associated with anxiety-related personality traits in women. A replication study. Neuropsychobiology. 2003;48:169-75 pubmed
    ..Hence, these data further suggest the human AP-2beta gene as a novel candidate gene in personality. ..
  47. Schabram I, Eggermann T, Siegel S, Grunder G, Zerres K, Vernaleken I. Neuropsychological correlates of transcription factor AP-2Beta, and its interaction with COMT and MAOA in healthy females. Neuropsychobiology. 2013;68:79-90 pubmed publisher
    ..Interactions of transcription factor AP-2?, COMT, and MAOA polymorphisms suggest higher leverage effects of transcription factor AP-2? in subjects with high dopamine availability. ..
  48. Chen Y, Zhao W, Zhang Z, Fu Q, Shen J, Zhang Z, et al. Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B. Pediatr Cardiol. 2011;32:958-65 pubmed publisher
    ..Mutations in TFAP2B, which encodes a neural crest-derived transcription factor, can cause Char syndrome, characterized by PDA, facial ..
  49. Bille D, Banasik K, Justesen J, Sandholt C, Sandbæk A, Lauritzen T, et al. Implications of central obesity-related variants in LYPLAL1, NRXN3, MSRA, and TFAP2B on quantitative metabolic traits in adult Danes. PLoS ONE. 2011;6:e20640 pubmed publisher
    ..sulfoxide reductase A (MSRA), and rs987237 in transcription factor activating enhancer-binding protein 2 beta (TFAP2B) associate with measures of central obesity...
  50. Bamforth S, Braganca J, Eloranta J, Murdoch J, Marques F, Kranc K, et al. Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. Nat Genet. 2001;29:469-74 pubmed
    ..As certain Tfap2 isoforms are essential in neural crest, neural tube and cardiac development, we propose that abnormal embryogenesis in mice lacking Cited2 results, at least in part, from its role as a Tfap2 co-activator. ..
  51. Lingaiah K, Sosalagere D, Mysore S, Krishnamurthy B, Narayanappa D, Nallur R. Mutations of TFAP2B in congenital heart disease patients in Mysore, South India. Indian J Med Res. 2011;134:621-6 pubmed publisher
    ..The study aimed to screen for TFAP2B mutations in CHD patients of Mysore...
  52. Nilsson K, Damberg M, Ohrvik J, Leppert J, Lindström L, Anckarsater H, et al. Genes encoding for AP-2beta and the Serotonin Transporter are associated with the Personality Character Spiritual Acceptance. Neurosci Lett. 2007;411:233-7 pubmed
    ..Boys and girls with the combination of presence of the short 5-HTTLPR, and homozygosity for the long AP-2beta genotype scored significantly lower on Self-Transcendence and Spiritual Acceptance. ..
  53. Xiong F, Li Q, Zhang C, Chen Y, Li P, Wei X, et al. Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease. Cardiovasc Pathol. 2013;22:141-5 pubmed publisher
    ..The germline mutations in GATA4, NKX2.5, and TFAP2B genes have been identified to be responsible for congenital heart disease. The frequency of GATA4, NKX2...
  54. Ivorra J, D Souza U, Jover M, Arranz M, Williams B, Henry S, et al. Association between neonatal temperament, SLC6A4, DRD4 and a functional polymorphism located in TFAP2B. Genes Brain Behav. 2011;10:570-8 pubmed publisher
    ..Thirteen polymorphisms in the SLC6A4, DRD4 and TFAP2B genes were genotyped. Linear regression was performed to analyze data, and Bonferroni correction was applied...
  55. den Hoed M, Ekelund U, Brage S, Grontved A, Zhao J, Sharp S, et al. Genetic susceptibility to obesity and related traits in childhood and adolescence: influence of loci identified by genome-wide association studies. Diabetes. 2010;59:2980-8 pubmed publisher
    ..Whereas the association of some variants may differ with age, the cumulative effect size is similar. ..
  56. Kawase K, Sugiura T, Nagaya Y, Yamada T, Sugimoto M, Ito K, et al. Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants. Pediatr Int. 2016;58:461-6 pubmed publisher
    ..SNP) in several genes, including angiotensin II receptor, type 1 (AGTR1), transcription factor AP-2 beta (TFAP2B) and tumor necrosis factor receptor-associated factor 1 (TRAF1), have been reported to be associated with PDA in ..
  57. Keyel P, Thieman J, Roth R, Erkan E, Everett E, Watkins S, et al. The AP-2 adaptor beta2 appendage scaffolds alternate cargo endocytosis. Mol Biol Cell. 2008;19:5309-26 pubmed publisher
    ..We conclude that ARH and beta-arrestin depend on a privileged beta2 appendage site for proper cargo recruitment to clathrin bud sites. ..
  58. Wang F, Huang W, Hu X, Chen C, Li X, Qiu J, et al. Transcription factor AP-2? suppresses cervical cancer cell proliferation by promoting the degradation of its interaction partner ?-catenin. Mol Carcinog. 2017;56:1909-1923 pubmed publisher
    ..Taken together, these findings demonstrated that AP-2? functions as a novel inhibitor of the Wnt/?-catenin signaling pathway in cervical cancer. ..
  59. Ikram F, Ackermann S, Kahlert Y, Volland R, Roels F, Engesser A, et al. Transcription factor activating protein 2 beta (TFAP2B) mediates noradrenergic neuronal differentiation in neuroblastoma. Mol Oncol. 2016;10:344-59 pubmed publisher
    ..We here investigated the role of transcription factor activating protein 2 beta (TFAP2B), a key factor in sympathetic nervous system development, in neuroblastoma pathogenesis and differentiation...
  60. Williamson J, Bosher J, Skinner A, Sheer D, Williams T, Hurst H. Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors. Genomics. 1996;35:262-4 pubmed
    ..Tcfap2b and Tcfap2c map to mouse chromosomes 1A2-4 and 2H3-4, respectively, while TFAP2B and TFAP2C map to human chromosomes 6p12 and 20q13...
  61. Fu L, Shi K, Wang J, Chen W, Shi D, Tian Y, et al. TFAP2B overexpression contributes to tumor growth and a poor prognosis of human lung adenocarcinoma through modulation of ERK and VEGF/PEDF signaling. Mol Cancer. 2014;13:89 pubmed publisher
    b>TFAP2B is a member of the AP2 transcription factor family, which orchestrates a variety of cell processes. However, the roles of TFAP2B in regulating carcinogenesis remain largely unknown...
  62. Ji W, Benson M, Bhattacharya S, Chen Y, Hu J, Li F. Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency. J Surg Res. 2014;188:466-472 pubmed publisher
    Patent ductus arteriosus (PDA) is one of the most common congenital heart defects. Transcription factor AP-2 beta (TFAP2B) mutations are associated with the Char syndrome, a disorder associated with PDA, and with facial and fingers ..
  63. Blagoev B, Kratchmarova I, Ong S, Nielsen M, Foster L, Mann M. A proteomics strategy to elucidate functional protein-protein interactions applied to EGF signaling. Nat Biotechnol. 2003;21:315-8 pubmed
    ..SILAC combined with modification-based affinity purification is a useful approach to detect specific and functional protein-protein interactions. ..
  64. Kraja A, Vaidya D, Pankow J, Goodarzi M, Assimes T, Kullo I, et al. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes. 2011;60:1329-39 pubmed publisher
    ..4% of systolic blood pressure. CONCLUSIONS Qualitative and quantitative pleiotropic tests on pairs of traits indicate that a small portion of the covariation in these traits can be explained by the reported common genetic variants. ..
  65. Hensch T, Wargelius H, Herold U, Strobel A, Oreland L, Brocke B. Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene. Neurosci Lett. 2008;436:67-71 pubmed publisher
    ..The findings promote replication in a larger sample and suggest a potential usefulness of AP-2beta polymorphisms in explaining or predicting central nervous diseases, drug effects and side effects. ..
  66. Raap M, Gronewold M, Christgen H, Glage S, Bentires Alj M, Koren S, et al. Lobular carcinoma in situ and invasive lobular breast cancer are characterized by enhanced expression of transcription factor AP-2β. Lab Invest. 2018;98:117-129 pubmed publisher
    Transcription factor AP-2β (TFAP2B) regulates embryonic organ development and is overexpressed in alveolar rhabdomyosarcoma, a rare childhood malignancy. Gene expression profiling has implicated AP-2β in breast cancer (BC)...
  67. Cui P, Shi K, Cui H, Hao L, Su Y, Li P. Correlation between transcription factor activator protein-2β (TFAP-2β) and endometrial carcinoma. Eur J Gynaecol Oncol. 2015;36:268-73 pubmed
    ..TFAP-2β may influence the oc- currence and development of EC through regulating the expression of various adipokines and lipoprotein metabolism. Probably TFAP-2β can be a candidate tumor marker for EC. ..
  68. Vastrad B, Vastrad C, Godavarthi A, Chandrashekar R. Molecular mechanisms underlying gliomas and glioblastoma pathogenesis revealed by bioinformatics analysis of microarray data. Med Oncol. 2017;34:182 pubmed publisher
    ..RNA polymerase II core promoter proximal region sequence-specific binding (5) such as MEIS2, MEOX2, NR2E1, PITX2, TFAP2B, ZFPM2 were selected...
  69. Barzago M, Kurosaki M, Fratelli M, Bolis M, Giudice C, Nordio L, et al. Generation of a new mouse model of glaucoma characterized by reduced expression of the AP-2β and AP-2δ proteins. Sci Rep. 2017;7:11140 pubmed publisher
    ..of AP-2β expression is likely to be responsible for the pathologic phenotype, as conditional deletion of the Tfap2b gene in the neural crest has recently been shown to cause defective development of the eye anterior segment and ..
  70. Guo W, Lu J, Dai M, Wu T, Yu Z, Wang J, et al. Transcriptional coactivator CBP upregulates hTERT expression and tumor growth and predicts poor prognosis in human lung cancers. Oncotarget. 2014;5:9349-61 pubmed
    ..Collectively, our results indicate that CBP contributes to the upregulation of hTERT expression and tumor growth, and overexpression of CBP predicts poor prognosis in human lung cancers. ..
  71. Fogu G, Bandiera P, Cambosu F, Carta A, Pilo L, Serra G, et al. Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies. Eur J Med Genet. 2007;50:103-11 pubmed
    ..We also speculate on the possible role played by the TFAP2B (Transcription Factor AP2-beta) gene, which is one of the genes mapped on the duplicated segment.
  72. Prichard Z, Jorm A, MacKinnon A, Easteal S. Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits. Psychiatr Genet. 2007;17:299-303 pubmed
    ..Genes included were those known to regulate dopamine synthesis and transmission in the brain (DBH, DRD2, MAOA, TFAP2B, NR4A2, LMX1B) and those involved in the differentiation of social and sexual behaviour in men and women (AR, ESR1,..
  73. Oyama N, Takahashi H, Tojo M, Iwatsuki K, Iizuka H, Nakamura K, et al. Different properties of three isoforms (alpha, beta, and gamma) of transcription factor AP-2 in the expression of human keratinocyte genes. Arch Dermatol Res. 2002;294:273-80 pubmed
    ..Disruption of the epidermal AP-2 balance may contribute to hyperproliferative conditions, such as psoriasis and SCC. ..
  74. Ding X, Luo C, Zhou J, Zhong Y, Hu X, Zhou F, et al. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. J Cell Biochem. 2009;106:285-95 pubmed publisher
    ..Taken together, our results indicate the novel function of KCTD1 as the transcriptional repressor for AP-2 family, especially for AP-2alpha. ..
  75. Uchida C, Oda T, Sugiyama T, Otani S, Kitagawa M, Ichiyama A. The role of Sp1 and AP-2 in basal and protein kinase A--induced expression of mitochondrial serine:pyruvate aminotransferase in hepatocytes. J Biol Chem. 2002;277:39082-92 pubmed
    ..These results suggest that AP-2 and Sp1 regulate basal promoter activity, and Sp1 is also involved in PKA-mediated expression of the rat SPT gene in concert with the transcriptional coactivator CBP. ..
  76. Ren Y, Liao W. Transcription factor AP-2 functions as a repressor that contributes to the liver-specific expression of serum amyloid A1 gene. J Biol Chem. 2001;276:17770-8 pubmed
    ..Taken together, our results suggest that AP-2 may function as a transcription repressor to inhibit the expression of not only SAA1 gene but also other liver genes in nonhepatic cells. ..
  77. Ebauer M, Wachtel M, Niggli F, Schafer B. Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR. Oncogene. 2007;26:7267-81 pubmed
    ..Importantly, TFAP2B was validated as direct target gene mediating the anti-apoptotic function of PAX3/FKHR...
  78. Ugi S, Maegawa H, Maeda S. [Role of TFAP2B and WntSB in adipose tissue]. Nihon Rinsho. 2011;69 Suppl 1:269-74 pubmed
  79. Ding X, Fan C, Zhou J, Zhong Y, Liu R, Ren K, et al. GAS41 interacts with transcription factor AP-2beta and stimulates AP-2beta-mediated transactivation. Nucleic Acids Res. 2006;34:2570-8 pubmed
    ..Finally, electrophoretic mobility shift assay (EMSA) suggested that GAS41 enhances the DNA-binding activity of AP-2beta. Our data provide evidence for a novel cellular function of GAS41 as a transcriptional co-activator for AP-2beta. ..
  80. Oya M, Mikami S, Mizuno R, Miyajima A, Horiguchi Y, Nakashima J, et al. Differential expression of activator protein-2 isoforms in renal cell carcinoma. Urology. 2004;64:162-7 pubmed
    ..AP-2alpha was dominantly expressed in clear cell RCC. AP-2beta expression was observed in the low-stage subtypes of RCC, and this transcription factor may be related to early carcinogenesis. ..
  81. Martino V, Sabljic T, Deschamps P, Green R, Akula M, Peacock E, et al. Conditional deletion of AP-2? in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. Dis Model Mech. 2016;9:849-61 pubmed publisher
    ..Here, we investigate the function of the transcription factor AP-2?, encoded by Tfap2b, which is expressed in NCCs and their derivatives...
  82. Hotta K, Nakamura M, Nakamura T, Matsuo T, Nakata Y, Kamohara S, et al. Polymorphisms in NRXN3, TFAP2B, MSRA, LYPLAL1, FTO and MC4R and their effect on visceral fat area in the Japanese population. J Hum Genet. 2010;55:738-42 pubmed publisher
    ..are associated with variations in several genes, including neurexin 3 (NRXN3), transcription factor AP-2? (TFAP2B), methionine sulfoxide reductase A (MSRA), lysophospholipase-like-1 (LYPLAL1), fat mass and obesity associated (..
  83. Chen Y, Zhao W, Li F, Ji W, Fu Q, Zhang Z, et al. [Mutation of TFAP-2B gene in patients with patent ductus arteriosus]. Zhonghua Er Ke Za Zhi. 2010;48:900-4 pubmed
    ..513, P = 0.012). We identified a novel splice-junction in TFAP-2B gene which might lead to hereditary PDA in a Chinese family. However, the mechanism by which this mutation results in PDA is still to be ascertained. ..
  84. Nilsson K, Sonnby K, Nordquist N, Comasco E, Leppert J, Oreland L, et al. Transcription Factor Activating Protein-2? (TFAP-2?) genotype and symptoms of attention deficit hyperactivity disorder in relation to symptoms of depression in two independent samples. Eur Child Adolesc Psychiatry. 2014;23:207-17 pubmed publisher
    ..The presence of the nine-repeat variant of the TFAP-2? intron 1 VNTR appears to protect girls with ADHD symptoms from the co-expression of symptoms of depression. ..
  85. Stocks T, Angquist L, Hager J, Charon C, Holst C, Martinez J, et al. TFAP2B -dietary protein and glycemic index interactions and weight maintenance after weight loss in the DiOGenes trial. Hum Hered. 2013;75:213-9 pubmed publisher
    b>TFAP2B rs987237 is associated with obesity and has shown interaction with the dietary fat-to-carbohydrate ratio, which has an effect on weight loss...