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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
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