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FLASH GENE
Symbol ZIC4 contributors: mct/npt - updated : 13-09-2011
HGNC name Zic family member 4
HGNC id 20393
Corresponding disease
DWS1 Dandy-Walker syndrome 1
Location 3q24      Physical location : 147.103.834 - 147.124.407
Synonym name
  • zinc finger protein of the cerebellum 4
  • zinc finger protein ZIC 4
    • Synonym symbol(s) FLJ42609, FLJ45833
    DNA
    TYPE functioning gene
    STRUCTURE 20.00 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 4087 36.6 334 - Grinberg (2004)
    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