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FLASH GENE
Symbol TFAP2A contributors: mct/npt/pgu - updated : 24-04-2012
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
    Physical map
    LOC389365 6 LOC389365 OFCC1 6p24.3 orofacial cleft 1 candidate 1 LOC346096 6p24.1 similar to Rpl7a protein LOC391868 6 similar to 60S ribosomal protein L21 LOC391869 6 similar to ribosomal protein L7-like 1 TFAP2A 6p24.3-p24.2 transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) MGC40222 6p24.1 hypothetical protein MGC40222 MRPL48P1 6p24.1 mitochondrial ribosomal protein L48 pseudogene 1 GCNT2 6p24.1 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme LOC389366 6 similar to C6orf52 protein PAK1IP1 6p24.1 PAK1 interacting protein 1 C6orf53 6p24.1 chromosome 6 open reading frame 53 TMEM14B 6p25.1-p23 transmembrane protein 14B MAK 6q22 male germ cell-associated kinase GCM2 6p23 glial cells missing homolog 2 (Drosophila) LOC221711 6p24.1 hypothetical protein LOC221711 ELOVL2 6p22.3 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 LOC389367 6 LOC389367 LOC389368 6 similar to hypothetical protein D930020E02 NEDD9 6p25-p24 neural precursor cell expressed, developmentally down-regulated 9 C6orf105 6p24.1 chromosome 6 open reading frame 105 LOC389369 6 LOC389369 HIVEP1 6p24.1 human immunodeficiency virus type I enhancer binding protein 1 EDN1 6p24.1 endothelin 1
    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
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificchondrocyte
    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
  • 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 (Pubmed 21963426)
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    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)
  • 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
  • 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
    • 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
    • Variant & Polymorphism SNP
  • 1257C
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS