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FLASH GENE
Symbol TFAP2B contributors: mct/npt - updated : 01-07-2012
HGNC name transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
HGNC id 11743
Corresponding disease
CHAR CHAR syndrome
Location 6p12.3      Physical location : 50.786.438 - 50.815.325
Synonym name
  • activating enhancer binding protein 2 beta
  • transcription factor AP-2 beta
  • Synonym symbol(s) AP2B, CHAR, MGC21381
    DNA
    TYPE functioning gene
    STRUCTURE 28.89 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence scaffold attachement regions/matrix attachement regions
    MAPPING cloned Y linked N status confirmed
    Map see PKHD1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 5770 - 460 - Williamson (1996)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnervecranial nerve  highly
    Visualeye   highly Mus musculus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualamacrine cell Mus musculusFetal
    Visualhorizontal association cell Mus musculusFetal
    cell lineage cells derived from neuroectoderm
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text facial, neural crest, mesenchyme, cornea, kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an amino-terminal P/Q-rich transcriptional activation domain
  • a helix-span-helix domain, mediating dimerization and DNA binding
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Tcfqp2b
    Homologene
    FAMILY
  • AP2 transcription factor family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • retinoic acid induced differentiation of neurons and geia
  • involved in ductal,facial,limb development
  • playing an important role in development, apoptosis, cell-cycle control, and complex morphogenic processes
  • involved in monoaminergic transmission, likely due to a regulatory effect on genes that are fundamental to this system, monoamine oxidase type A, and the serotonin transporter (Nordquist 2009)
  • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CDK5 interacting with TFAP2B
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHAR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    causing isolated patent ductus arteriosus without other clinical features (Khetyar 2008)
    Susceptibility
  • to type 2 diabetes
  • to female alcoholism
  • Variant & Polymorphism SNP
  • increasing the risk of type 2 diabetes
  • high-functioning allele was significantly more common among the female alcoholics, compared to the non-alcoholic controls (Nordquist 2009)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS