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TFAP2C
Identifiers
Aliases	TFAP2C, AP2-GAMMA, ERF1, TFAP2G, hAP-2g, transcription factor AP-2 gamma
External IDs	OMIM: 601602; MGI: 106032; HomoloGene: 2423; GeneCards: TFAP2C; OMA:TFAP2C - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20q13.31 Start 56,629,306 bp End 56,639,283 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 H3 Start 172,391,513 bp End 172,400,542 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone epithelium of lactiferous gland lactiferous duct skin of thigh vulva skin of hip gingival epithelium hair follicle skin of arm buccal mucosa cell Top expressed in conjunctival fornix hair follicle decidua otic placode gastrula maxillary prominence ventricular zone primitive streak condyle lactiferous gland More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding protein binding protein dimerization activity DNA binding DNA-binding transcription factor activity DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding Cellular component mitochondrion nucleus nucleoplasm cytosol Biological process regulation of transcription by RNA polymerase II cell-cell signaling male gonad development regulation of transcription, DNA-templated regulation of cell population proliferation regulation of gene expression, epigenetic transcription, DNA-templated transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7022 21420 Ensembl ENSG00000087510 ENSMUSG00000028640 UniProt Q92754 Q61312 RefSeq (mRNA) NM_003222 NM_001159696 NM_009335 RefSeq (protein) NP_003213 NP_001153168 NP_033361 Location (UCSC) Chr 20: 56.63 – 56.64 Mb Chr 2: 172.39 – 172.4 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor AP-2 gamma also known as AP2-gamma is a protein that in humans is encoded by the TFAP2C gene. AP2-gamma is a member of the activating protein 2 family of transcription factors.

Transcription factor AP-2 gamma is involved in early development, specifically morphogenesis - the formation of shape. AP2-gamma can regulate gene transcription by interacting with viral and cellular enhancing components and binding to the sequence 5'-GCCNNNGGC-3’. AP2-gamma activates genes that are important for placenta development and retinoic acid-mediated differentiation of the eyes, face, body wall, limbs, and neural tube. AP2-gamma also suppresses genes such as MYC and C/EBP alpha. It also represses CD44 expression, which is a cell marker for some breast and prostate cancers. Mutations of this transcription factor can lead to poorly developed placenta and tissues. A mutated AP2-gamma gene is known to cause branchiooculofacial syndrome (BOFS), which is a disease characterized by face and neck abnormalities, such as cleft lip or anophthalmia – lack of eyeballs, that have developed prior to birth. Complete knockout of the TAP2C gene that encoded AP-2 gamma leads to placenta malformation and embryonic/fetal death.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000087510 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000028640 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.

Auman, H. J., T. Nottoli, O. Lakiza, Q. Winger, S. Donaldson, and T. Williams. "Transcription Factor AP-2gamma Is Essential in the Extra-embryonic Lineages for Early Postimplantation Development." National Center for Biotechnology Information. U.S. National Library of Medicine, June 2002. Web. 15 Apr. 2014.

Bogachek, M. V., and R. J. Weigel. "TFAP2C (transcription Factor AP-2 Gamma (activating Enhancer Binding Protein 2 Gamma))." TFAP2C (transcription Factor AP-2 Gamma(activating Enhancer Binding Protein 2 Gamma)). Oct. 2013. Web. 15 Apr. 2014.

"Branchio-oculo-facial Syndrome." Genetics Home Reference. U.S. National Library of Medicine, 7 Apr. 2014. Web. 15 Apr. 2014.

"Genes and Mapped Phenotypes." National Center for Biotechnology Information. U.S. National Library of Medicine, 12 Apr. 2014. Web. 15 Apr. 2014.

"Transcription Factor AP-2 Gamma - TFAP2C - Homo sapiens (Human)." Transcription Factor AP-2 Gamma - TFAP2C - Homo sapiens (Human). UniProtKB, 19 Mar. 2014. Web. 15 Apr. 2014.

Further reading

• Pauls K, Jäger R, Weber S, et al. (2005). "Transcription factor AP-2gamma, a novel marker of gonocytes and seminomatous germ cell tumors". Int. J. Cancer. 115 (3): 470–7. doi:10.1002/ijc.20913. PMID 15700319. S2CID 23301489.
• Aqeilan RI, Palamarchuk A, Weigel RJ, et al. (2004). "Physical and functional interactions between the Wwox tumor suppressor protein and the AP-2gamma transcription factor". Cancer Res. 64 (22): 8256–61. doi:10.1158/0008-5472.CAN-04-2055. PMID 15548692.
• Woodfield GW, Hitchler MJ, Chen Y, et al. (2009). "Interaction of TFAP2C with the estrogen receptor-alpha promoter is controlled by chromatin structure". Clin. Cancer Res. 15 (11): 3672–9. doi:10.1158/1078-0432.CCR-08-2343. PMC 2776721. PMID 19458056.
• Williams CM, Scibetta AG, Friedrich JK, et al. (2009). "AP-2gamma promotes proliferation in breast tumour cells by direct repression of the CDKN1A gene". EMBO J. 28 (22): 3591–601. doi:10.1038/emboj.2009.290. PMC 2782101. PMID 19798054.
• Orso F, Penna E, Cimino D, et al. (2008). "AP-2alpha and AP-2gamma regulate tumor progression via specific genetic programs". FASEB J. 22 (8): 2702–14. doi:10.1096/fj.08-106492. PMID 18443366. S2CID 6531051.
• Li H, Watts GS, Oshiro MM, et al. (2006). "AP-2alpha and AP-2gamma are transcriptional targets of p53 in human breast carcinoma cells". Oncogene. 25 (39): 5405–15. doi:10.1038/sj.onc.1209534. PMID 16636674.
• Zhao C, Yasui K, Lee CJ, et al. (2003). "Elevated expression levels of NCOA3, TOP1, and TFAP2C in breast tumors as predictors of poor prognosis". Cancer. 98 (1): 18–23. doi:10.1002/cncr.11482. PMID 12833450. S2CID 41092143.
• Pellikainen JM, Ropponen KM, Kataja VV, et al. (2004). "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. 10 (22): 7621–8. doi:10.1158/1078-0432.CCR-04-1061. PMID 15569994.
• Woodfield GW, Horan AD, Chen Y, Weigel RJ (2007). "TFAP2C controls hormone response in breast cancer cells through multiple pathways of estrogen signaling". Cancer Res. 67 (18): 8439–43. doi:10.1158/0008-5472.CAN-07-2293. PMID 17875680.
• Bragança J, Eloranta JJ, Bamforth SD, et al. (2003). "Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2". J. Biol. Chem. 278 (18): 16021–9. doi:10.1074/jbc.M208144200. PMID 12586840.
• Friedrichs N, Steiner S, Buettner R, Knoepfle G (2007). "Immunohistochemical expression patterns of AP2alpha and AP2gamma in the developing fetal human breast". Histopathology. 51 (6): 814–23. doi:10.1111/j.1365-2559.2007.02887.x. PMID 18042070. S2CID 85866319.
• Li H, Goswami PC, Domann FE (2006). "AP-2gamma induces p21 expression, arrests cell cycle, and inhibits the tumor growth of human carcinoma cells". Neoplasia. 8 (7): 568–77. doi:10.1593/neo.06367. PMC 1601932. PMID 16867219.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Li M, Kellems RE (2003). "Sp1 and Sp3 Are important regulators of AP-2gamma gene transcription". Biol. Reprod. 69 (4): 1220–30. doi:10.1095/biolreprod.103.015545. PMID 12801994.
• Orso F, Cottone E, Hasleton MD, et al. (2004). "Activator protein-2gamma (AP-2gamma) expression is specifically induced by oestrogens through binding of the oestrogen receptor to a canonical element within the 5'-untranslated region". Biochem. J. 377 (Pt 2): 429–38. doi:10.1042/BJ20031133. PMC 1223884. PMID 14565844.
• Guler G, Huebner K, Himmetoglu C, et al. (2009). "Fragile histidine triad protein, WW domain-containing oxidoreductase protein Wwox, and activator protein 2gamma expression levels correlate with basal phenotype in breast cancer". Cancer. 115 (4): 899–908. doi:10.1002/cncr.24103. PMC 2640223. PMID 19130459.
• Guler G, Iliopoulos D, Guler N, et al. (2007). "Wwox and Ap2gamma expression levels predict tamoxifen response". Clin. Cancer Res. 13 (20): 6115–21. doi:10.1158/1078-0432.CCR-07-1282. PMID 17947476.
• Kotani T, Iwase A, Ino K, et al. (2009). "Activator protein-2 impairs the invasion of a human extravillous trophoblast cell line". Endocrinology. 150 (9): 4376–85. doi:10.1210/en.2008-1645. PMID 19443578.
• Ailan H, Xiangwen X, Daolong R, et al. (2009). "Identification of target genes of transcription factor activator protein 2 gamma in breast cancer cells". BMC Cancer. 9: 279. doi:10.1186/1471-2407-9-279. PMC 3224728. PMID 19671168.

External links

• TFAP2C+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• FactorBook AP-2gamma

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