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FLASH GENE
Symbol VSX2 contributors: mct - updated : 26-04-2017
HGNC name visual system homeobox 2
HGNC id 1975
DNA
TYPE functioning gene
STRUCTURE 23.26 kb     5 Exon(s)
MAPPING cloned Y linked N status confirmed
Map cen - D14S71 - D14S1025 - VSX2 - D14S1047 - D14S273 - qter
Authors Percin (00)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 2995 - 361 - 2006 16236706
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousnervecranial nerve   
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryvisualinner nuclear layer 
cell lineage retinal neuroblasts
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text progenitor cells of developing retina
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