Family

Transcription factor AP-2 beta (IPR008122)

Short name: TF_AP2_beta

Family relationships

Description

Activator protein-2 (AP-2) transcription factors constitute a family of closely related and evolutionarily conserved proteins that bind to the DNA consensus sequence GCCNNNGGC and stimulate target gene transcription [PMID: 2010091, PMID: 1998122]. Four different isoforms of AP-2 have been identified in mammals, termed AP-2 alpha, beta, gamma and delta. Each family member shares a common structure, possessing a proline/glutamine-rich domain in the N-terminal region, which is responsible for transcriptional activation [PMID: 2010091], and a helix-span-helix domain in the C-terminal region, which mediates dimerisation and site-specific DNA binding [PMID: 1998122].

The AP-2 family have been shown to be critical regulators of gene expression during embryogenesis. They regulate the development of facial prominence and limb buds, and are essential for cranial closure and development of the lens [PMID: 11137286]; they have also been implicated in tumourigenesis. AP-2 protein expression levels have been found to affect cell transformation, tumour growth and metastasis, and may predict survival in some types of cancer [PMID: 9632718, PMID: 10864206]

AP-2 beta was originally isolated by cDNA screening of a human genomic library [PMID: 7555706]. The protein was designated AP-2 beta on the basis of its high sequence similarity to AP-2 alpha, its site-specific DNA binding, and its ability to stimulate transcription [PMID: 7555706]. Defects in AP-2 beta have been shown to cause Char syndrome, an autosomal dominant trait characterised by patent ductus arteriosus, facial dysmorphism and hand anomalies.

GO terms

Biological Process

GO:0006355 regulation of transcription, DNA-templated

Molecular Function

GO:0003700 transcription factor activity, sequence-specific DNA binding

Cellular Component

GO:0005634 nucleus

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PRINTS