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FLASH GENE
Symbol SIX5 contributors: - updated : 16-04-2007
HGNC name sine oculis homeobox homolog 5 (Drosophila)
HGNC id 10891
Corresponding disease
BOR2 branchio-oto-renal syndrome 2
Location 19q13.3      Physical location : 46.268.043 - 46.272.497
Synonym name
  • DM locus associated homeodomain protein
  • dystrophia myotonica-associated homeodomain protein
    • Synonym symbol(s) DMAHP, UNC-39
    DNA
    TYPE functioning gene
    STRUCTURE 4.00 kb     3 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - SIX5 - 5' - DMPK - 3' - DMWD - qter
    Authors Boucher (95)
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Nervousnervecranial nerve  highly
    Reproductivefemale systemovary  highly
     male systemtestis  moderately
     male systemprostate  highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly
    Nervousperipherous  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text fetal eyes
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three major transcription initiation sites, one (proximal) specific to early embryo, the other two common among adult heart and muscle
  • a Six domain
  • a helix-turn-helix, DNA (homeo) binding domain
    • HOMOLOGY
    interspecies homolog to Drosophila sine oculis homeo box SIX5
    homolog to rattus Six5 (86.72 pc)
    homolog to murine Six5 (87.90 pc)
    intraspecies homolog to AREC3 (muscle-specific transcription factor)
    Homologene
    FAMILY six class of homeobox
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • potentially involved in the development of adult onset cataracts of DM
  • regulating genes involved in myoblast fusion and the germline soma interaction (muscle and gonads development
  • required for spermatogenic cell survival and spermiogenesis
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein IGFBP5 (playing a role in pathogenesis of myotonic dystrophy)
    cell & other
    REGULATION
    inhibited by CTG repeat expansion in myotonic dystrophy
    ASSOCIATED DISORDERS
    corresponding disease(s) BOR2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in dystrophia myotonica
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS