TFAP2C

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)
End	56,639,283 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	172,400,542 bp
RNA expression pattern
	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
	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
	7022
	21420
	ENSG00000087510
	ENSMUSG00000028640
	Q92754
	Q61312
	NM_003222
	NM_001159696; NM_009335
	NP_003213
	NP_001153168; NP_033361
	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.^[5] 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

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