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FLASH GENE
Symbol SIX3 contributors: mct - updated : 27-09-2015
HGNC name SIX homeobox 3
HGNC id 10889
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal Groucho-binding EH1-like motif mutated in HPE (Domene 2008)
  • six domain thought to participate in transcriptional activation
  • a helix-turn-helix DNA (homeo domain) binding domain
    • HOMOLOGY
    interspecies homolog to Drosophila sine oculis homeo box SIX3
    intraspecies homolog to SIX6
    Homologene
    FAMILY
  • SIX/Sine oculis homeobox family
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in regulation of eye and neural plate development
  • playing a second and distinct role as a constituent component of a complex network of eye field transcription factors that regulate eye and lens development (Domene 2008)
  • is necessary for ependymal cell maturation during postnatal stages of brain development
  • exerts multiple functions in the development of anterior neural tissue of vertebrate embryos
  • promotes ventral telencephalic fates through transient regulation of FOXG1A expression and repression of the WNT/CTNNB pathway
  • direct regulatory link between SOX2 and SIX3 during forebrain development
  • may play an important role as a novel suppressor in human lung cancer
  • PAX6 or SIX3 is sufficient to induce ES cells to adopt a lens fate, potentially via non-cell autonomous mechanisms
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with GMNN(to control the balance betwween proliferation and differentiation during early eye development)
  • with NR4A3(required in the developing visual system)
  • association with members of the groucho co-receptor sub-family (Domene 2008)
  • SIX3 is a SOX2 transcriptional target (directly regulates a previously unidentified long-range forebrain enhancer to activate SIX3 expression in the rostral diencephalon)
    • cell & other
    REGULATION
    Other regulated by PAX6
    ASSOCIATED DISORDERS
    corresponding disease(s) HPE2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by methylation of the SIX3 promoter, in lung adenocarcinoma tissues compared to their matched adjacent normal tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker has potential as a novel prognostic biomarker for patients with lung adenocarcinomas
    Therapy target
    ANIMAL & CELL MODELS