TFAP2B

TFAP2B
Identifiers
Aliases	TFAP2B, AP-2B, AP2-B, transcription factor AP-2 beta
External IDs	MGI: 104672 HomoloGene: 20688 GeneCards: TFAP2B
Genetically Related Diseases
obesity, disease of metabolism[1]
Gene ontology Molecular function • DNA binding • RNA polymerase II transcription coactivator activity • sequence-specific DNA binding • RNA polymerase II transcription corepressor activity • protein dimerization activity • protein homodimerization activity • transcription corepressor activity • transcription factor activity, sequence-specific DNA binding • transcription coactivator activity • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • chromatin binding • transcription factor activity, RNA polymerase II core promoter sequence-specific • cysteine-type endopeptidase inhibitor activity involved in apoptotic process • protein binding • enhancer sequence-specific DNA binding • protein heterodimerization activity • RNA polymerase II transcription factor activity, sequence-specific DNA binding • RNA polymerase II core promoter sequence-specific DNA binding Cellular component • nucleus Biological process • negative regulation of neuron apoptotic process • forelimb morphogenesis • collecting duct development • cellular urea homeostasis • regulation of transcription, DNA-templated • sympathetic nervous system development • retina layer formation • positive regulation of urine volume • glucose homeostasis • calcium ion homeostasis • distal tubule development • kidney development • regulation of insulin secretion • phosphate ion homeostasis • cellular creatinine homeostasis • negative regulation of apoptotic process • negative regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • metanephric nephron development • aorta morphogenesis • magnesium ion homeostasis • hindlimb morphogenesis • transcription, DNA-templated • response to lithium ion • regulation of BMP signaling pathway • positive regulation of transcription, DNA-templated • positive regulation of neuron apoptotic process • cellular ammonia homeostasis • potassium ion homeostasis • positive regulation of cell proliferation • renal water homeostasis • glucose metabolic process • sensory organ development • regulation of cell differentiation • sodium ion homeostasis • negative regulation of transcription, DNA-templated • fat cell differentiation • ductus arteriosus closure • response to drug • positive regulation of transcription from RNA polymerase II promoter • negative regulation of cell proliferation • skin development • apoptotic process • negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7021	21419
Ensembl	ENSG00000008196	ENSMUSG00000025927
UniProt	Q92481	Q61313
RefSeq (mRNA)	NM_003221	NM_001025305 NM_001286340 NM_009334
RefSeq (protein)	NP_003212.2	NP_033360.2
Location (UCSC)	Chr 6: 50.82 – 50.85 Mb	Chr 1: 19.21 – 19.24 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.^[4][5]

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.^[6]

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.^[6]

References

1. "Diseases that are genetically associated with TFAP2B view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. Moser M, Imhof A, Pscherer A, Bauer R, Amselgruber W, Sinowatz F, Hofstädter F, Schüle R, Buettner R (1 September 1995). "Cloning and characterization of a second AP-2 transcription factor: AP-2 beta". Development. 121 (9): 2779–88. PMID 7555706.
5. Williamson JA, Bosher JM, Skinner A, Sheer D, Williams T, Hurst HC (July 1996). "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. doi:10.1006/geno.1996.0351. PMID 8661133.
6. "Entrez Gene: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)".

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. doi:10.1210/me.2005-0311. 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. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
• 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. doi:10.1371/journal.pgen.1000508. PMC 2695778. 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. doi:10.1038/oby.2009.83. PMID 19325541.
• 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. doi:10.1097/YPG.0b013e32816ebc9e. PMID 17728669.
• 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 restrospectively scored response to lithium prophylaxis in bipolar disorder". Neurosci. Lett. 403 (3): 288–93. doi:10.1016/j.neulet.2006.05.001. PMID 16787706.
• 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. doi:10.1016/j.ejmg.2006.11.002. 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. doi:10.1016/j.neulet.2008.02.062. PMID 18358611.
• Khetyar M, Syrris P, Tinworth L, et al. (2008). "Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus". Genet. Test. 12 (3): 457–9. doi:10.1089/gte.2008.0015. 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. doi:10.1101/gr.4039406. PMC 1356129. 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. doi:10.1542/peds.2008-0313. PMC 2734952. 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. doi:10.1093/nar/gkl319. PMC 3303177. PMID 16698963.
• Eckert D, Buhl S, Weber S, et al. (2005). "The AP-2 family of transcription factors". Genome Biol. 6 (13): 246. doi:10.1186/gb-2005-6-13-246. PMC 1414101. 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. doi:10.1016/j.gene.2007.04.029. 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. doi:10.1038/sj.onc.1210525. PMID 17525748.
• 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. doi:10.1016/j.neulet.2006.10.051. PMID 17123722.
• 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. doi:10.1074/jbc.M605132200. 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. doi:10.1074/jbc.M610579200. 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. doi:10.1007/s00702-009-0183-3. PMID 19184334.
• 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. 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.