TFAP2B

TFAP2B
Identifiers
Aliases	TFAP2B, AP-2B, AP2-B, transcription factor AP-2 beta, PDA2, AP-2beta
External IDs	OMIM: 601601; MGI: 104672; HomoloGene: 20688; GeneCards: TFAP2B; OMA:TFAP2B - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6p12.3 Start 50,818,723 bp End 50,847,619 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 A3 Start 19,279,138 bp End 19,308,800 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis tail of epididymis oocyte secondary oocyte parotid gland buccal mucosa cell palpebral conjunctiva renal medulla epithelium of lactiferous gland lactiferous duct Top expressed in neural layer of retina connecting tubule parotid gland thin ascending limb of loop of Henle hair follicle superior cervical ganglion maxillary prominence conjunctival fornix iris lacrimal gland More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding transcription coactivator activity sequence-specific DNA binding transcription corepressor activity protein dimerization activity protein homodimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding RNA polymerase II general transcription initiation factor activity cysteine-type endopeptidase inhibitor activity involved in apoptotic process protein binding cis-regulatory region sequence-specific DNA binding protein heterodimerization activity RNA polymerase II core promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding Cellular component nucleus nucleoplasm 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 transcription by RNA polymerase II 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 ammonium homeostasis potassium ion homeostasis positive regulation of cell population 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 negative regulation of cell population proliferation skin development apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II 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 NP_001020476 NP_001273269 NP_033360 Location (UCSC) Chr 6: 50.82 – 50.85 Mb Chr 1: 19.28 – 19.31 Mb PubMed search
Wikidata
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Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.

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.

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.

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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. 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. 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. 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. doi:10.1097/YPG.0b013e32816ebc9e. hdl:1885/34438. PMID 17728669. 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. doi:10.1016/j.neulet.2006.05.001. PMID 16787706. 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. 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. 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. 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. 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. doi:10.1016/j.neulet.2006.10.051. PMID 17123722. 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. 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. 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. doi:10.1007/s10038-005-0253-9. 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.