TFAP2C information

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)[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 172,391,513 bp[2] End 172,400,542 bp[2]
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 [3] [4]
Wikidata
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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.