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.