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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ZIC2 Gene

protein-coding   GIFtS: 64
GCID: GC13P100634

Zic Family Member 2

(Previous names: Zic family member 2 (odd-paired Drosophila homolog), Zic...)
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 rhombencephalosynapsis, and zic2-related holoprosencephaly, and among its related super-pathways are Basal cell carcinoma. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.2  NT_009952.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ZIC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: 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)
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:

  • UniProtKB: Phosphorylated
  • UniProtKB: Ubiquitinated by RNF180, leading to its degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95409

  • ZIC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZIC2 Protein Expression
    REFSEQ proteins: NP_009060.2  
    ENSEMBL proteins: 
     ENSP00000365514  

    Human Recombinant Protein Products for ZIC2: 
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    Cloud-Clone Corp. Proteins for ZIC2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ZIC2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for ZIC2 
    Cloud-Clone Corp. CLIAs for ZIC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    ZIC2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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:0008270zinc ion binding ----
    GO:0031490chromatin DNA binding ISS--
         
    ZIC2 for ontologies           About GeneDecksing


    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 

    ZIC2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ZIC2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ZIC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ZIC2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ZIC2 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidZIC2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of ZIC2 

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    PureStem Progenitor E68, PureStem SK11, NCr-fac & Meso-prx Progenitor,
    PureStem SM30, NCr-fac & Meso-latp Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZIC2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ZIC2
        Transcription factors in neurogenesis



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


    ZIC2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZIC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/15 Interacting proteins for ZIC2 (O954092, 3 ENSP000003655144) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKDCP785272, 3, ENSP000003134204MINT-6175887 I2D: score=1 STRING: ENSP00000313420
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    ENSG00000233911Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

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

    ZIC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ZIC2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about ZIC2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/36 QIAGEN miScript miRNA 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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      QIAGEN 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 

    24/65 AceView cDNA sequences (see all 65):

    BE219194 H88883 BE672058 AI041041 AW235902 NM_007129 AF193855 AW264509 
    AI871501 BF438724 AF188733 AI359298 AI480178 CA427434 BF594212 BQ922512 
    CD672765 AI968295 AI239762 H88884 BU619638 AW118627 BM692520 AA219388 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ZIC2 expression in normal human tissues (normalized intensities)      ZIC2 embryonic expression: see
    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 
     5/24 selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Meningeal Fibroblasts Anterior Pia Mater
             Thalamus
             Human Cerebellar Astrocytes   
             Septum   
     
     Somite (Muscoskeletal System)    fully expand to see all 17 entries
             Myoblasts Cervical Epaxial Myotome
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 16 entries
             Myoblasts Cervical Epaxial Myotome
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 12 entries
             ES03(HES-3)
             ESI-051   
     
     Uncategorized (Uncategorized)    fully expand to see all 8 entries
             PureStem Progenitor ES-198

    See ZIC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZIC2

    SOURCE GeneReport for Unigene cluster: Hs.653700
        SABiosciences Expression via Pathway-Focused 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

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ZIC2 gene from 8/18 species (see all 18)    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 91.24(n)1
    98.68(a)1
      14 (65.97 cM)5
    227721  NM_009574.31  NP_033600.31 
     1224754355 
    chicken
    (Gallus gallus)
    Aves ZIC21 Zic family member 2 89.21(n)
    93.2(a)
      428021  XM_003640545.1  XP_003640593.1 
    lizard
    (Anolis carolinensis)
    Reptilia ZIC26
    --
    --
    82(a)
    56(a)
    1 ↔ 1
    possible ortholog
    3(99290144-99295679)
    3(19999913-20010193)
    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   --
    worm
    (Caenorhabditis elegans)
    Secernentea ref-26
    Protein REF-2, isoform b
    38(a)
    1 → many
    X(7744239-7750010)
    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
    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

    ZIC2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ZIC2_HUMAN, O95409
    Polymorphism: The poly-His region between amino acids 231-239 of ZIC2 is polymorphic and the number of His can
    vary from 8 to 12


    10/105 SNPs in ZIC2 are shown (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) 10/15 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/22 diseases for ZIC2 (see all 22):    About MalaCards
    rhombencephalosynapsis    zic2-related holoprosencephaly    patau syndrome    holoprosencephaly
    semilobar holoprosencephaly    moyamoya disease    neural tube defects    spina bifida
    oral squamous cell carcinoma    polydactyly    coloboma    bipolar disorder
    cleft palate    meningioma    cleft lip    cervical cancer
    schizophrenia    squamous cell carcinoma    retinitis    cervicitis

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

    ZIC2 for disorders           About GeneDecksing

    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

    PubMed articles for ZIC2 gene, integrated from 9 sources (see all 69):
    (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. (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. (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. (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. (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. (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. (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. (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. (2005)
    9. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (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. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7546 HGNC: 12873 AceView: ZIC2 Ensembl:ENSG00000043355 euGenes: HUgn7546
    ECgene: ZIC2 Kegg: 7546 H-InvDB: ZIC2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ZIC2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ZIC2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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     Proteins for ZIC2
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     Cell Lines associated with ZIC2: PureStem ES-210, Ecto-ntu Progenitor,
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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