TFAP2C

Transcription factor AP-2 gamma also known as AP2-gamma is a protein that in humans is encoded by the TFAP2C gene.[5] AP2-gamma is a member of the activating protein 2 family of transcription factors.

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
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.31 Start 56,629,306 bp[1] End 56,639,283 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H3 Start 172,549,593 bp[2] End 172,558,622 bp[2]
Gene ontology Molecular function • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • RNA polymerase II regulatory region sequence-specific DNA binding • GO:0001948 protein binding • protein dimerization activity • DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding Cellular component • mitochondrion • cell nucleus • nucleoplasm • cytosol Biological process • regulation of transcription from RNA polymerase II promoter • cell-cell signaling • male gonad development • regulation of transcription, DNA-templated • regulation of cell proliferation • epigenetic regulation of gene expression • transcription, DNA-templated • transcription from RNA polymerase II promoter • negative regulation of transcription from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter 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: 172.55 – 172.56 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.
• 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.
• 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.
• 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.
• 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 US National Library of Medicine Medical Subject Headings (MeSH)
• FactorBook AP-2gamma