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FLASH GENE
Symbol TFAP2A contributors: mct/npt/pgu - updated : 24-04-2019
HGNC name transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
HGNC id 11742
Corresponding disease
BOFS branchio-oculo--facial syndrome
DEL6PD chromosome 6p subtelomeric deletion syndrome
Location 6p24.2      Physical location : 10.396.916 - 10.419.797
Synonym name
  • activating enhancer-binding protein 2 alpha
  • activator protein 2
    • Synonym symbol(s) AP2, AP2A, AP2TF, TFAP2, AP-2, TCFAP2A
    DNA
    TYPE functioning gene
    STRUCTURE 22.88 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D6S1713 - D6S477 - D6S1640 - DSP - BMP6 - D6S1674 - D6S309 - D6S297 - D6S263 - D6S296 - D6S410 - D6S1574 - D6S470 - TFAP2A - CAPZB2 - GCNT2 - EDN1 - D6S1446 - D6S1034 - cen
    RNA
    TRANSCRIPTS type messenger
    text four alternative forms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3300 48 437 - 2009 19115315
    7 - 3808 - 431 - 1992 1587861
    7 - 3150 - 433 - 1992 1587861
    - - - - 165 - 2009 19115315
    - - - - 263 - 2009 19115315
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Reproductivefemale systemuteruscervix highly
     female systembreastmammary gland highly
     female systemplacenta  highly
    Visualeye   highly Mus musculusFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificchondrocyte
    Visualamacrine cell Mus musculusFetal
    Visualhorizontal association cell Mus musculusFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text
  • neural tube
  • expressed by 14 weeks gestation and by 22 weeks its expression becomes restricted to the luminal epithelial cells
  • expressed in the ventral non-neural ectoderm
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal transactivation domain
  • a complex DNA binding and dimerization motif
  • a WW-binding motif mediating interaction with WWOX
  • a C-terminal helix-span-helix motif mediating dimerization
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Tcfap2a
    Homologene
    FAMILY
  • AP2 family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text completely co-localized with KCTD1 in the nuclei of cells
    basic FUNCTION
  • transcription activator, regulating the expression of genes required for development of tissues of ectodermal origin
  • cellular proteins that drive the polymerization of clathrin triskelia into cage structures
  • activating CDKN1A (WAF1) and other genes such as MCAM
  • retinoic-acid-responsive gene potentially involved in anterior eye chamber development
  • TFAP2A is a ubiquitously present transcription factor that has been recently reported to be essential for cardiomyocyte viability and involved in congenital heart diseases
  • playing a negative role in chondrocyte differentiation
  • required for normal development of multiple structures during embryogenesis, including the face and limbs
  • with TFAP2C, play an essential role in tumorigenesis
  • a specific fraction of the TFAP2A-derived endocytic pathway is dedicated to secretory purposes under the control of AP1 and AP1AR
  • involved in regulating mid-face development and upper lip fusion
  • TFAP2A and FOXD3, in addition to their respective roles in the differentiation of neural crest derivatives, also jointly maintain the balance of BMP and WNT signaling in order to delineate the neural crest induction domain (
  • IRF6 and TFAP2A are part of a genetic regulatory network that is critical in epithelial development, with implications for both orofacial and cutaneous tissues 3)
  • duplicated in the chordate lineage and is essential for development of the neural crest
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    TFAP2A-IRF6-GRHL3 genetic pathway is shared by two embryologically distinct morphogenetic events that previously were considered independent during mammalian development
    a component
  • binds DNA as a dimer
  • can form homodimers or heterodimers with other AP-2 family members
    • INTERACTION
    DNA sequence specific DNA binding
    RNA
    small molecule
    protein
  • Eps15 (EDH5) for receptor-mediated endocytosis
  • interacts with WWOX and with CITED4
  • associating with AAK1 (phosphorylates the micro2 subunit of TFAP2A and regulates its recruitment to tyrosine-based internalization motifs found on membrane-bound receptors)
  • interacting with KCTD1 (significantly repressed TFAP2-mediated transactivation through the BTB domain)
  • essential role for TFAP2A in MUC8 gene expression
  • binds CDKN1A to two regions of the promoter: the proximal region where the AP-2 site lies and upstream near the major TP53 binding site
  • plays a negative role in regulating CHRNA7 transcription
  • possible interaction between FOXD1 and TFAP2A
  • in neural crest cells TFAP2A directly activates expression of SOX10, which encodes a transcription factor essential for neural crest development
  • synergistic effects of HRK promoter hypermethylation and loss of TFAP2A transactivation lead to HRK gene silencing and confer resistance to apoptosis and enhanced tumor growth
  • CAPN7 interacted with activator protein 2 (TFAP2A), an important transcription factor of MMP2
  • MYO6 functions in endocytosis in conjunction with binding partners including adaptor protein (TFAP2A, DAB2, and GIPC1)
  • TFAP2A regulates activated F2R signaling by altering receptor surface expression and through recruitment of regulator of G protein signaling (RGS) proteins
  • IRF6 regulates TFAP2A protein level in epidermal development 3)
    • cell & other
  • binding of TFAP2A adaptor complex to brain membrane is regulated by phosphorylation of proteins
    • REGULATION
    induced by retinoic acid
    Other developmentally regulated
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL6PD , BOFS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in tumor growth and metastasis of melanoma cells
    tumoral     --over  
    strongly expressed in poorly differentiated neuroblastomas
    constitutional     --low  
    accompanied by altered patterning of the forelimb, resulting in postaxial polydactyly
    Susceptibility
  • potentially susceptibility gene for spina-bifida
  • to Orofacial clefts
    • Variant & Polymorphism SNP
  • 1257C
  • de novo mutations in IRF6, TFAP2A, and ZFHX4 are associated with Orofacial clefts
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS