Gene content
Symbol	TFAP2A ( by HUGO)
Name	Transcription Factor AP-2 Alpha (Activating Enhancer Binding...
Category	Other
Alias	Transcription Factor AP-2 Alpha (Activating Enhancer Binding Protein 2 Alpha) AP2TF TFAP2 Activating Enhancer-Binding Protein 2-Alpha Activator Protein 2 AP-2 AP2-alpha AP-2 Transcription Factor BOFS Transcription Factor AP-2 Alpha (Activating Enhancer-Binding Protein 2 Alpha) AP-2alpha Transcription Factor AP-2-Alpha
Cytogenetic band	NCBI: 6p24    Ensembl: 6p24.3
Protein information	AP2A_HUMAN Size: 437 amino acids Mass: 48062 Da Subunit: Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with RALBP1 in a complex also containing EPN1 and NUMB during interphase and mitosis. Interacts with KCTD1; this interaction represses transcription activation. Interacts (via C-terminus) with CITED2 (via C-terminus); the interaction stimulates TFAP2A-transcriptional activation. Interacts (via N-terminus) with EP300 (via N-terminus); the interaction requires CITED2. Interacts with KCTD15; this interaction inhibits TFAP2A transcriptional activation Function: UniProtKB/Swiss-Prot Summary: AP2A_HUMAN, P05549 Function: Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region Similarity: Belongs to the AP-2 family [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR004979	TF_AP2	Transcription factor AP-2	Family
	IPR008121	TF_AP2_alpha_N	Transcription factor AP-2 alpha	Family
Blocks	IPB004979	Transcription factor AP-2 signature	Transcription factor AP-2 signature
	IPB008121	Transcription factor AP-2 alpha signature	Transcription factor AP-2 alpha signature

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	negative regulation of transcription by competitive promoter binding	IDA	GOA	8321221
	negative regulation of transcription by competitive promoter binding	IMP	GOA	11278550
	positive regulation of bone mineralization	IDA	GOA	19578371
	positive regulation of tooth mineralization	IDA	GOA	19578371
	positive regulation of transcription from RNA polymerase II promoter	IDA	GOA	11278550
	positive regulation of transcription, DNA-templated	IDA	GOA	12586840
Cellular Component	nucleus	IMP	GOA	12586840
Molecular Function	core promoter proximal region sequence-specific DNA binding	IDA	GOA	7559606
	protein binding	IPI	GOA	10987820
	protein dimerization activity	IDA	GOA	12072434
	protein homodimerization activity	TAS	GOA	7559606
	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	IDA	GOA	11278550
	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	IDA	GOA	11278550
	RNA polymerase II core promoter sequence-specific DNA binding	IDA	GOA	7555706
	sequence-specific DNA binding	IDA	GOA	12586840
	sequence-specific DNA binding RNA polymerase II transcription factor activity	IDA	GOA	7555706
	transcription coactivator activity	IDA	GOA	12586840
	transcription regulatory region DNA binding	IDA	GOA	12586840
	transcription regulatory region sequence-specific DNA binding	IDA	GOA	18718911

Disorder & Mutation
Source	Disease
SWISS-PROT	Branchiooculofacial syndrome (BOFS) [MIM:113620]: A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry

TFAP2A cross reference
PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene