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ZIC2 Gene

protein-coding   GIFtS: 63
GCID: GC13P100634

Zic Family Member 2

(Previous names: Zic family member 2 (odd-paired Drosophila homolog), Zic...)
  See ZIC2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Zic Family Member 21 2
Zinc Finger Protein Of The Cerebellum 21 2 3
Zic Family Member 2 (Odd-Paired Homolog, Drosophila)1 2
HPE52 5
Zic Family Member 2 (Odd-Paired Drosophila Homolog)1
Zinc Finger Protein ZIC 22

External Ids:    HGNC: 128731   Entrez Gene: 75462   Ensembl: ENSG000000433557   OMIM: 6030735   UniProtKB: O954093   

Export aliases for ZIC2 gene to outside databases

Previous GC identifers: GC13P098994 GC13P095021 GC13P099470 GC13P098332 GC13P099432 GC13P081227


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ZIC2 Gene:
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a
transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Mutations in this
gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain.
A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects.
This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member
on chromosome 13. (provided by RefSeq, Jul 2008)

GeneCards Summary for ZIC2 Gene:
ZIC2 (Zic family member 2) is a protein-coding gene. Diseases associated with ZIC2 include holoprosencephaly-5, and zic2-related holoprosencephaly. GO annotations related to this gene include chromatin DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MTF1.

UniProtKB/Swiss-Prot: ZIC2_HUMAN, O95409
Function: Acts as a transcriptional activator or repressor. Plays important roles in the early stage of
organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral
retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional
activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic
chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal
GLI-consensus sequence 5'-TGGGTGGTC-3'. Associates to the basal SERT promoter region from ventrotemporal retinal
segments of retinal embryos

Gene Wiki entry for ZIC2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_009952.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZIC2 gene promoter:
         E2F-3a   E2F-4   COUP-TF1   MyoD   COUP   HNF-4alpha2   HNF-4alpha1   COUP-TF   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZIC2 promoter sequence
   Search Chromatin IP Primers for ZIC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZIC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q32   Ensembl cytogenetic band:  13q32.3   HGNC cytogenetic band: 13q32

ZIC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZIC2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P100634:  view genomic region     (about GC identifiers)

Start:
100,634,026 bp from pter      End:
100,639,019 bp from pter
Size:
4,994 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ZIC2_HUMAN, O95409 (See protein sequence)
Recommended Name: Zinc finger protein ZIC 2  
Size: 532 amino acids; 55006 Da
Subunit: Interacts with RNF180. Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type
domains 3, 4 and 5); the interaction reduces its transcriptional activity. Interacts with DHX9 (By similarity)
Secondary accessions: Q5VYA9 Q9H309

Explore the universe of human proteins at neXtProt for ZIC2: NX_O95409

Explore proteomics data for ZIC2 at MOPED

Post-translational modifications: 

  • Phosphorylated1
  • Ubiquitinated by RNF180, leading to its degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZIC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009060.2  
    ENSEMBL proteins: 
     ENSP00000365514  

    ZIC2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ZIC2

     
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    antibodies-online proteins for ZIC2 (2 products) 

     
    antibodies-online peptides for ZIC2

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    antibodies-online antibodies for ZIC2 (33 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry O95409

    ProtoNet protein and cluster: O95409

    UniProtKB/Swiss-Prot: ZIC2_HUMAN, O95409
    Domain: The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation (By similarity)
    Similarity: Belongs to the GLI C2H2-type zinc-finger protein family
    Similarity: Contains 5 C2H2-type zinc fingers


    Find genes that share domains with ZIC2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZIC2_HUMAN, O95409
    Function: Acts as a transcriptional activator or repressor. Plays important roles in the early stage of
    organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral
    retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional
    activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic
    chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal
    GLI-consensus sequence 5'-TGGGTGGTC-3'. Associates to the basal SERT promoter region from ventrotemporal retinal
    segments of retinal embryos

         Genatlas biochemistry entry for ZIC2:
    zinc finger protein 2,expressed in dorsal neural tube,eye and distal limb during development and later only in
    cerebellum,homolog to mouse Zic2 and Drosophila odd-paired (Opa) gene,putative regulator of the kinetics of
    regulation,located in the critical region of 13q32 deletion

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--
    GO:0005515protein binding ----
    GO:0031490chromatin DNA binding ISS--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ZIC2           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Zic2):
     behavior/neurological  cardiovascular system  craniofacial  embryogenesis  integument 
     limbs/digits/tail  mortality/aging  nervous system  pigmentation  skeleton 

    Find genes that share phenotypes with ZIC2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ZIC2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ZIC2:
    hsa-mir-93-5p (MIRT048739), hsa-mir-320a (MIRT044573)

    Block miRNA regulation of human, mouse, rat ZIC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ZIC2 (see all 36):
    hsa-miR-485-3p hsa-miR-374c hsa-miR-3658 hsa-miR-497* hsa-miR-564 hsa-miR-181b hsa-miR-499-3p hsa-miR-1261
    SwitchGear 3'UTR luciferase reporter plasmidZIC2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ZIC2
    Predesigned siRNA for gene silencing in human, mouse, rat ZIC2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ZIC2 (see all 6)
    OriGene ORF clones in mouse, rat for ZIC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ZIC2 (NM_007129)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ZIC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZIC2

    Cell Line
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    ESI BIO PureStem Progenitors for ZIC2: 
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    PureStem SM30, NCr-fac & Meso-latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZIC2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ZIC2_HUMAN, O95409: Nucleus. Cytoplasm (By similarity). Note=Localizes in the cytoplasm in presence of MDFIC
    overexpression. Both phosphorylated and unphosphorylated forms are localized in the nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--

    Find genes that share ontologies with ZIC2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ZIC2 About    
    See pathways by source

    SuperPathContained pathways About
    1Basal cell carcinoma
    Hedgehog signaling pathway0.43
    2Transcription factors in neurogenesis
    Transcription factors in neurogenesis


    Find genes that share SuperPaths with ZIC2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for ZIC2):
        Hedgehog signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ZIC2: 
              Stem Cell Transcription Factors in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ZIC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for ZIC2 (O954092, 3 ENSP000003655144) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKDCP785272, 3, ENSP000003134204MINT-6175887 I2D: score=1 STRING: ENSP00000313420
    ENSG00000235068Q018603, ENSP000004050414I2D: score=1 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0007399nervous system development ----
    GO:0007417central nervous system development ----
    GO:0007420brain development TAS9771712

    Find genes that share ontologies with ZIC2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ZIC2

    2 Novoseek inferred chemical compound relationships for ZIC2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 41.8 4 11285244 (1), 17251188 (1), 10677508 (1), 11699604 (1)
    alanine 0.791 3 11285244 (1), 14679585 (1)



    Find genes that share compounds with ZIC2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ZIC2 gene: 
    NM_007129.3  

    Unigene Cluster for ZIC2:

    Zic family member 2
    Hs.653700  [show with all ESTs]
    Unigene Representative Sequence: NM_007129
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376335(uc001von.3) ENST00000490085 ENST00000468291 ENST00000477213
    ENST00000481565
    miRNA
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    Block miRNA regulation of human, mouse, rat ZIC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ZIC2 (see all 36):
    hsa-miR-485-3p hsa-miR-374c hsa-miR-3658 hsa-miR-497* hsa-miR-564 hsa-miR-181b hsa-miR-499-3p hsa-miR-1261
    SwitchGear 3'UTR luciferase reporter plasmidZIC2 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat ZIC2

    Additional mRNA sequence: 

    AF104902.1 AF188733.1 AF193855.1 AF339806.1 AK298232.1 

    5 DOTS entries:

    DT.443811  DT.100752217  DT.95369529  DT.86847592  DT.120782680 

    Selected AceView cDNA sequences (see all 65):

    AW118627 AI041041 BF438724 AW264509 BQ922512 AI359298 AI480178 H88883 
    BF594212 H88884 AW235902 AI968295 AF188733 NM_007129 CA427434 AI239762 
    BE672058 AI871501 BU619638 AF193855 BE219194 CD672765 AA988219 BF110817 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ZIC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATGTTTTA
    ZIC2 Expression
    About this image


    ZIC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Meningeal Fibroblasts Anterior Pia Mater
             Thalamus
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 7 entries
             hIPS1
     
     Adipose (Muscoskeletal System)    fully expand to see all 5 entries
             Sacral Dermomyotome Cells Sacral Dermomyotome
             HyStem+BMP4-induced SM30 cells
     
     Somite (Muscoskeletal System)    fully expand to see all 5 entries
             Lumbar Somite Cells Lumbar Somite
    ZIC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZIC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.653700
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ZIC2: 
              Stem Cell Transcription Factors in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZIC2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ZIC2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zic21 , 5 zinc finger protein of the cerebellum 21, 5 90.74(n)1
    98.11(a)1
      14 (65.97 cM)5
    227721  NM_009574.31  NP_033600.31 
     1224754355 
    chicken
    (Gallus gallus)
    Aves ZIC21 Zic family member 2 88.42(n)
    91.64(a)
      428021  XM_003640545.2  XP_003640593.2 
    lizard
    (Anolis carolinensis)
    Reptilia ZIC26
    Zic family member 2
    82(a)
    1 ↔ 1
    3(99290144-99295679)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB009565.12   -- 79.69(n)    AB009565.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zic22 zinc finger cerebellum 2 78.77(n)   58077  AF151535.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta opa3 midgut development specific RNA
    polymerase II more
    61(a)
    (best of 2)
      3 82E1   --
    wheat
    (Triticum aestivum)
    Liliopsida CK214919.12   -- 68.56(n)    CK214919.1 


    ENSEMBL Gene Tree for ZIC2 (if available)
    TreeFam Gene Tree for ZIC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for ZIC2 gene
    MTF12  ZIC32  ZNF4102  ZNF762  GLI12  ZIC12  GLIS22  GLI22  
    ZIC42  GLIS12  ZNF1432  GLIS32  ZIC52  GLI32  
    6 SIMAP similar genes for ZIC2 using alignment to 1 protein entry:     ZIC2_HUMAN:
    ZIC1    ZIC3    ZIC4    ZNF323    ZIC5    ZNF32

    Find genes that share paralogs with ZIC2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ZIC2_HUMAN, O95409: The poly-His region between amino acids 231-239 of ZIC2 is polymorphic and the number of His can
    vary from 8 to 12


    Selected SNPs for ZIC2 (see all 105)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0585954
    Holoprosencephaly 5 (HPE5)4--see VAR_0585952 H L mis40--------
    VAR_0586094
    Holoprosencephaly 5 (HPE5)4--see VAR_0586092 R W mis40--------
    VAR_0585984
    Holoprosencephaly 5 (HPE5)4--see VAR_0585982 H Y mis40--------
    VAR_0585974
    Holoprosencephaly 5 (HPE5)4--see VAR_0585972 H Y mis40--------
    VAR_0586044
    Holoprosencephaly 5 (HPE5)4--see VAR_0586042 C F mis40--------
    VAR_0585944
    Holoprosencephaly 5 (HPE5)4--see VAR_0585942 S N mis40--------
    VAR_0586054
    Holoprosencephaly 5 (HPE5)4--see VAR_0586052 R P mis40--------
    VAR_0586074
    Holoprosencephaly 5 (HPE5)4--see VAR_0586072 T K mis40--------
    VAR_0586034
    Holoprosencephaly 5 (HPE5)4--see VAR_0586032 H Y mis40--------
    VAR_0585964
    Holoprosencephaly 5 (HPE5)4--see VAR_0585962 H Q mis40--------

    HapMap Linkage Disequilibrium report for ZIC2 (100634026 - 100639019 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ZIC2 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747875CNV Deletion23290073
    esv2672999CNV Deletion23128226
    nsv1146CNV Loss18451855
    nsv510622CNV Loss20534489
    nsv456093CNV Loss19166990
    dgv1785n71CNV Loss21882294
    nsv832697CNV Loss17160897
    nsv900950CNV Loss21882294
    dgv1784n71CNV Loss21882294
    nsv826757CNV Loss20364138

    Human Gene Mutation Database (HGMD): ZIC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ZIC2
    DNA2.0 Custom Variant and Variant Library Synthesis for ZIC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603073   
    OMIM disorders: 609637  
    UniProtKB/Swiss-Prot: ZIC2_HUMAN, O95409
  • Holoprosencephaly 5 (HPE5) [MIM:609637]: A structural anomaly of the brain, in which the developing
    forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically
    heterogeneous and associated with several distinct facies and phenotypic variability. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 16 diseases for ZIC2:    
    About MalaCards
    holoprosencephaly-5    zic2-related holoprosencephaly    st. louis encephalitis    rhombencephalosynapsis
    patau syndrome    semilobar holoprosencephaly    holoprosencephaly    refractive error
    septopreoptic holoprosencephaly    midline interhemispheric variant of holoprosencephaly    lobar holoprosencephaly    neural tube defects
    alobar holoprosencephaly    single median maxillary central incisor    moyamoya disease    spina bifida

    3 diseases from the University of Copenhagen DISEASES database for ZIC2:
    Holoprosencephaly     Patau syndrome     Spina bifida

    Find genes that share disorders with ZIC2           About GenesLikeMe

    5 Novoseek inferred disease relationships for ZIC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    holoprosencephaly 95.4 15 11285244 (2), 11479728 (2), 15221788 (1), 17251188 (1) (see all 12)
    monosomy 58.9 1 19022413 (1)
    nervous system abnormalities 55.5 1 11285244 (1)
    neural tube defects 54.9 1 14679585 (1)
    spina bifida 38.3 3 10677508 (2), 11699604 (1)

    GeneTests: ZIC2
    GeneReviews: ZIC2
    Genetic Association Database (GAD): ZIC2
    Human Genome Epidemiology (HuGE) Navigator: ZIC2 (3 documents)

    Export disorders for ZIC2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for ZIC2 gene, integrated from 10 sources (see all 70):
    (articles sorted by number of sources associating them with ZIC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. (PubMed id 9771712)1, 2, 3 Brown S.A.... Muenke M. (Nat. Genet. 1998)
    2. Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene. (PubMed id 11857562)1, 4, 9 Brown L.Y....Brown S. (Am. J. Med. Genet. 2002)
    3. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. (PubMed id 11285244)1, 2, 9 Brown L.Y.... Muenke M. (Hum. Mol. Genet. 2001)
    4. Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans. (PubMed id 14679585)1, 4, 9 Klootwijk R....Franke B. (Am. J. Med. Genet. A 2004)
    5. ZIC2 and Sp3 repress Sp1-induced activation of the human D1A dopamine receptor gene. (PubMed id 10984499)1, 2, 9 Yang Y.... Mouradian M.M. (J. Biol. Chem. 2000)
    6. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. (PubMed id 15221788)1, 2, 9 Dubourg C.... David V. (Hum. Mutat. 2004)
    7. The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. (PubMed id 19177455)1, 2, 9 Roessler E.... Muenke M. (Hum. Mutat. 2009)
    8. In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation. (PubMed id 15590697)1, 2 Brown L.... Brown S. (Hum. Mol. Genet. 2005)
    9. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    10. Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations. (PubMed id 12522805)1, 4 Zhu H....Hendricks K. (Am. J. Med. Genet. A 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7546 HGNC: 12873 AceView: ZIC2 Ensembl:ENSG00000043355 euGenes: HUgn7546
    ECgene: ZIC2 Kegg: 7546 H-InvDB: ZIC2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ZIC2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ZIC2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ZIC2 gene:
    Search GeneIP for patents involving ZIC2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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