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FLASH GENE
Symbol TFAP4 contributors: mct - updated : 24-04-2017
HGNC name transcription factor AP-4 (activating enhancer binding protein 4)
HGNC id 11745
Location 16p13.3      Physical location : 4.307.187 - 4.323.001
Synonym name
  • class C basic helix-loop-helix protein 41
  • activating enhancer-binding protein 4
  • Synonym symbol(s) AP4, TAP4, AP-4, bHLHc41
    DNA
    TYPE functioning gene
    STRUCTURE 15.81 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned   linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2147 - 338 - 2014 24500709
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    Reproductivefemale systemuteruscervix  
     female systemovary   
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    two leucine repeat elements and a helix-loop helix domain
    HOMOLOGY
    interspecies homolog to murine Tfap4
    Homologene
    FAMILY BHLH family of transcription factors
    CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • involved in signal-mediated trafficking of integral membrane proteins
  • activating both viral and cellular genes by binding to the symmetrical dna sequence 5'- cagctg-3'
  • is a new regulator of EMT that contributes to metastatic processes in CRC and presumably other carcinomas
  • is an oncogenic antagonist of cellular senescence, that achieves this effect by direct repression of CDKN1A, CDKN2A, and may thereby critically contribute to MYC function and tumor progression
  • maintains MYC-initiated cellular activation programs in CD8+ T cells to control microbial infection
  • is a central mediator and coordinator of cell cycle progression in response to mitogenic signals and MYC activation
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component complexing with GMNN (repressor complex distinct from REST/NRSF to negatively regulate the expression of target genes in nonneuronal cells and may contribute to suppressing the precocious expression of target genes in fetal brain)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transcriptional repressor of PHYHIP
  • interacting with MYC
  • CREB1, SP1, and TFAP4 play roles in modulating PPP2R2B expression
  • modulates reversible and epigenetic silencing of the CD4 gene
  • during the G2 phase of the cell division cycle, TFAP4 is targeted for proteasome-dependent degradation by the BTRC ubiquitin ligase
  • BTRC-dependent degradation of TFAP4 is required for the fidelity of mitotic division
  • TFAP4 is the transcription factor that was induced by MYC and sustained activation of antigen-specific CD8+ T cells
  • direct transcriptional target of MYC
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in primary neuroblastoma patients is associated with poor clinical outcome
    tumoral     --over  
    in primary colorectal cancer (CRC) significantly correlated with liver metastasis and poor patient survival
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    inhibition of TFAP4 function may represent a therapeutic approach to block tumor cell proliferation
    ANIMAL & CELL MODELS