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FLASH GENE
Symbol SIX3 contributors: mct - updated : 27-09-2015
HGNC name SIX homeobox 3
HGNC id 10889
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainforebrain    Homo sapiens
Visualeyelens   
 eyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousependymal cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text very early during eye development in midline forebrain and in anterior region of the neural plate especially inner retina and later in ganglion cells and in cells of the inner nuclear layer
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