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FLASH GENE
Symbol VSX2 contributors: mct - updated : 26-04-2017
HGNC name visual system homeobox 2
HGNC id 1975
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an octopeptide, the helix-turn-helix homeodomain
  • a CVC (goldfish ca -Vsx1-Vsx2) domain, and essential function of the CVC domain is to assist the homeodomain in high-affinity DNA binding, which is required for eye organogenesis and unhindered execution of the retinal progenitor program in mammals
  • an OAR domain
  • homeobox DNA-binding domain
    • HOMOLOGY
    interspecies homolog to C.elegans ceh-10
    ortholog to murine Chx10
    ortholog to rattus chx10
    Homologene
    FAMILY
  • paired-like homeodomain protein family
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in the specification and morphogenesis of the sensory retina
  • required for retinal progenitor cell proliferation early in retinogenesis and subsequently for bipolar neuron differentiation
  • involved in bipolar cells differentiation
  • play a critical role in the developing kidney
  • LHX3/VSX2 medullary reticular formation neurons are likely involved in locomotion
  • utilizes both cell-autonomous and cell-nonautonomous mechanisms to regulate progenitor properties in the embryonic retina
  • labels all multipotent retinal progenitor cells (RPCs) and is known to play important roles in retinal development
  • can function as a cell autonomous regulator of the regional identity in the primordial retina, presumably through a downstream transcriptional cascade
  • important role for VSX2 as a regulator of WNT signaling, suggesting that VSX2 may act to maintain neural retina (NR) identity at the expense of RPE in part by direct repression of WNT pathway constituents
  • VSX2 actively promotes spinal V2a interneurons fate, downstream of LHX3, while concomitantly suppressing the motor neurons (MN) developmental program by preventing the MN-specific transcription complex from binding and activating MN genes
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA binding to the locus control region of the cone pigment cluster LCR-RGCP@
    RNA
    small molecule
    protein
  • binds sites upstream of the Rod arrestin and Interphotoreceptor retinoid-binding protein genes but not Rhodopsin or Cone opsin (may target these motifs to inhibit rod photoreceptor gene expression in bipolar cells)
  • VSX1 is a direct target of VSX2-mediated transcriptional repression
  • binds to the NXNL1 promoter (regulates NXNL1 promoter activity in the inner retina)
  • interacting with PRDM1 (can bind to the VSX2 enhancer and repress VSX2 enhancer activity)
  • VSX2 gene expression requires active FGF signaling and this in turn suppresses DMBX1 expression and maintains cells in an undifferentiated, proliferative retinal progenitor cells (RPCs) state
  • VSX2 role in regulating MITF is in part separable from its role in promoting proliferation, and proliferation is excluded as the intrinsic timer that determines when neurogenesis is initiated
  • antagonistic relationship between VSX2 and DMBX1 to control retinal progenitor cells (RPCs) proliferation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCIA , MCOP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    cause reduced proliferation of retinal progenitor cells during development, leading to microphthalmia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS