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FLASH GENE
Symbol TFAP2D contributors: mct - updated : 12-05-2016
HGNC name transcription factor AP-2 delta (activating enhancer binding protein 2 delta)
HGNC id 15581
Location 6p12.3      Physical location : 50.681.256 - 50.740.745
Synonym name
  • transcription factor AP-2 beta (activating enhancer binding protein 2 beta)-like 1
  • transcription factor AP-2 delta
  • AP-2 like
  • Synonym symbol(s) TFAP2BL1, AP2-delta
    DNA
    TYPE functioning gene
    STRUCTURE 59.49 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2040 49 452 - 2002 11733187
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • transcription factor AP-2 family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • transcription factor activity
  • functional role in recruiting histone methyltransferases (HMTs) to specific gene targets, such as HOXC8
  • is an important transcription factor, specifying gene expression patterns required for the development of the posterior midbrain
  • is a transcription factor important for modulating gene expression in embryogenesis
  • TFAP2D protein overexpression is linked to prostate cancer progression and genomic instability in ERG negative prostate cancers
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ASH2L positively mediates TFAP2D transactivation in a dose-dependent manner
  • FGFR3 is a transcriptional target of TFAP2D and ASH2L-containing histone methyltransferase complexes
  • occupies and activates the POU4F3 and BHLHB4 promoters
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in prostate cancer as compared to adjacent non-neoplastic glands
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tfap2d-deficient mice failed to maintain the colliculus inferior, a derivative of the dorsal midbrain, as a consequence of increased apoptotic cell death