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FLASH GENE
Symbol ZIC4 contributors: mct/npt - updated : 13-09-2011
HGNC name Zic family member 4
HGNC id 20393
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four C2H2-type zinc fingers
    • HOMOLOGY
    interspecies homolog to rattus LOC315882
    ortholog to murine Zic4
    Homologene
    FAMILY
  • GLI C2H2-type zinc-finger protein family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text nuclear localization of ZIC4/ZIC5 not affected by the presence of MDFI
    basic FUNCTION
  • may be playing a role in cerebellar development
  • required for development of the dorsal roof plate
  • ZIC1 and ZIC4 have both SHH-dependent and -independent roles during cerebellar development and that multiple developmental disruptions underlie ZIC1/4-related Dandy-Walker malformation
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • ion Zn2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DWS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in X-linked visceral heterotaxy and holoprosencephaly type 5
    constitutional   deletion    
    of ZIC1 and ZIC4 in patient presented with mental retardation, epilepsy, and multiple congenital malformations including spina bifida, mild dysmorphic facial features and Dandy-Walker malformation (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS