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Symbol ZIC2 contributors: mct/ - updated : 29-11-2015
HGNC name Zic family member 2 (odd-paired homolog, Drosophila)
HGNC id 12873
Corresponding disease
DEL13Q32 chromosome 13q distal deletion, including band q32
HPE5 holoprosencephaly 5
Location 13q32.3      Physical location : 100.634.318 - 100.639.018
Synonym name
  • zinc finger protein of cerebellum 2
  • zinc finger protein ZIC 2
  • DNA
    TYPE functioning gene
    STRUCTURE 4.70 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    MBNL2 13q31.1 muscleblind-like 2 (Drosophila) RAP2A 13q34 RAP2A, member of RAS oncogene family LOC121906 13q32.2 similar to Proteasome subunit alpha type 6 (Proteasome iota chain) (Macropain iota chain) (Multicatalytic endopeptidase complex iota chain) (27 kDa prosomal protein) (PROS-27) (p27K) LOC387943 13 LOC387943 KPNB3 13q32.2 karyopherin (importin) beta 3 FARP1 13q32.2-q32.3 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) ZNF183L1 13q zinc finger protein 183-like 1 STK24 13q32 serine/threonine kinase 24 (STE20 homolog, yeast) HCP35 13q32.3 cytochrome c, somatic pseudogene SLC15A1 13q33-q34 solute carrier family 15 (oligopeptide transporter), member 1 DOCK9 13q32.1 dedicator of cytokinesis 9 LOC390421 13 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) PHGDHL1 13 phosphoglycerate dehydrogenase like 1 GPR18 13q32 G protein-coupled receptor 18 EBI2 13q32.3 Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) LOC390422 13 similar to Epstein-Barr virus induced gene 2 TM9SF2 13q32.2 transmembrane 9 superfamily member 2 CLYBL 13q32.3 citrate lyase beta like ZIC5 13q32.2 Zic family member 5 (odd-paired homolog, Drosophila) ZIC2 13q32 Zic family member 2 (odd-paired homolog, Drosophila) PCCA 13q32 propionyl Coenzyme A carboxylase, alpha polypeptide LOC87769 13q32.3 hypothetical protein BC004360 FLJ14624 13q32.3 hypothetical protein FLJ14624 LOC390423 13 similar to ADP-ribosylation factor 4 VGCNL1 13q32.3 voltage gated channel like 1 ITGBL1 13q33 integrin, beta-like 1 (with EGF-like repeat domains) FGF14 13q34 fibroblast growth factor 14 TPP2 13q32-q33 tripeptidyl peptidase II LOC196541 13q33.1 similar to RIKEN cDNA 2310038H17
    regionally located located in the critical region of 13q32 deletion
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2698 - 532 - 2000 10677508
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina    Homo sapiensFetal
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Visualganglion cell Homo sapiens
    cell lineage
    cell lines
    at STAGE
    physiological period embryo, fetal, pregnancy
  • in dorsal neural tube, eye, distal limb, cochlea
  • in embryonic retina
  • zinc finger protein containing a polyalanine stretch, expanded in some cases of HPE5
  • five C2H2 zinc finger (ZF) motifs
  • ZF domain binds DNA, recognizing GC-rich target sequences, and is characterized as a transcriptional activation domain
  • a ZIC2 phosphorylation site
  • a Gli-binding site
    interspecies homolog to murine Zic2
    homolog to Drosophila odd-paired (Opa) gene
  • GLI C2H2-type zinc-finger protein family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    text ZIC1/ZIC2/ZIC3 proteins were translocated to the cytoplasmic compartment in the presence of MDFI
    basic FUNCTION
  • putative regulator of the kinetic neural development
  • transcriptional activator that plays a crucial role in forebrain development
  • plays two distinct roles in forebrain development: at mid-gastrulation functions to maintain the organizer region, and other function occurs in the dorsal neurectoderm of the developing brain where it acts to promote formation of the dorsal signaling centre responsible for roof-plate and choroid plexus development
  • upregulates EPHB1 expression and define a link between a transcription factor and expression of a guidance receptor protein essential for axon guidance at the vertebrate midline
  • potential existence of an additional EPHB1-independent pathway controlled by ZIC2 that contributes to retinal axon divergence at the midline
  • necessary and sufficient for the specification of retinal ganglion cells (RGCs) that project ipsilaterally at the optic chiasm midline
  • controls the refinement of eye-specific inputs in the visual targets by regulating directly the expression of SLC6A4, which is involved in the modulation of activity-dependent mechanisms during the wiring of sensory circuits
  • necessary and sufficient for the expression of SLC6A4 in the retina
  • controls specifically the refinement of ipsilateral but not contralateral axons in the primary visual targets by controlling directly the expression of SLC6A4
  • ZIC1, ZIC2, ZIC3, are strongly expressed in immature retinal progenitor cells, and their roles in retinal differentiation and proliferation are suggested by gain-of-function analysis
  • ZIC1, and ZIC2 function in patterning hindbrain motor neurons through their regulation of embryonic retinoic acid signaling
  • ZIC1 and ZIC2 are required for coordinating mature neuronal gene expression patterns
  • similar activities of ZIC1, ZIC2, and ZIC3, suggesting that Zics are redundant in terms of retinal cell differentiation
  • CELLULAR PROCESS nucleotide, transcription
    text cerebellum
    a component
    small molecule
  • binding of the ZIC1/ZIC2/ZIC3 proteins to MDFI through their N-terminal regions
  • interacts specifically with the Gli-binding site
  • ZIC2-binding to the cis-regulatory element near the TGIF1 promoter may be involved in the mechanism underlying forebrain development and incidences of holoprosencephaly (HPE)
  • cell & other
    corresponding disease(s) HPE5 , DEL13Q32
    Susceptibility to neural tube defect (NTDS2)
    Variant & Polymorphism other possible association between a histidine tract polymorphism in ZIC2 and NTD
    Candidate gene
    Therapy target
    reduced expression of ZIC2 neurulation delay resulting in HPE ans spinabifida