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ZIC3 Gene

protein-coding   GIFtS: 63
GCID: GC0XP136648

Zic Family Member 3

(Previous names: heterotaxy 1, Zic family member 3 (odd-paired homolog, Drosophila))
(Previous symbol: HTX1)
  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)
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Aliases
Zic Family Member 31 2     Zinc Finger Protein Of The Cerebellum 32 3
HTX11 2 5     ZNF2032 3
Heterotaxy 11 2     HTX2 5
Zic Family Member 3 (Odd-Paired Homolog, Drosophila)1 2     VACTERLX2 5
Zinc Finger Protein 2032 3     Zinc Finger Protein ZIC 32

External Ids:    HGNC: 128741   Entrez Gene: 75472   Ensembl: ENSG000001569257   OMIM: 3002655   UniProtKB: O604813   

Export aliases for ZIC3 gene to outside databases

Previous GC identifers: GC0XP131220 GC0XP133493 GC0XP134593 GC0XP135353 GC0XP136373 GC0XP136475 GC0XP125916


(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 ZIC3 Gene:
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably
functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene
cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in
organs. (provided by RefSeq, Jul 2008)

GeneCards Summary for ZIC3 Gene:
ZIC3 (Zic family member 3) is a protein-coding gene. Diseases associated with ZIC3 include zic3-related visceral heterotaxy, and visceral heterotaxy. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MTF1.

UniProtKB/Swiss-Prot: ZIC3_HUMAN, O60481
Function: Acts as transcriptional activator. Required in the earliest stages in both axial midline development and
left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'

Gene Wiki entry for ZIC3 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:
NC_000023.11  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZIC3 gene promoter:
         SRF   Sp1   SREBP-1c   SRF (504 AA)   SREBP-1b   SREBP-1a   Ik-2   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZIC3 promoter sequence
   Search Chromatin IP Primers for ZIC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZIC3


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

Entrez Gene cytogenetic band: Xq26.2   Ensembl cytogenetic band:  Xq26.3   HGNC cytogenetic band: Xq24-q27.1

ZIC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZIC3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP136648:  view genomic region     (about GC identifiers)

Start:
136,648,301 bp from pter      End:
136,659,850 bp from pter
Size:
11,550 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ZIC3_HUMAN, O60481 (See protein sequence)
Recommended Name: Zinc finger protein ZIC 3  
Size: 467 amino acids; 50569 Da
Subunit: 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 (By similarity). Interacts with KPNA1 and KPNA6. Interacts (via
C2H2-type domains 3, 4 and 5) with GLI3; the interaction enhances its transcriptional activity
2 PDB 3D structures from and Proteopedia for ZIC3:
2EJ4 (3D)        2RPC (3D)    
Secondary accessions: B2CNW4 Q14DE5 Q5JY75
Alternative splicing: 2 isoforms:  O60481-1   O60481-2   

Explore the universe of human proteins at neXtProt for ZIC3: NX_O60481

Explore proteomics data for ZIC3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZIC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003404.1  
    ENSEMBL proteins: 
     ENSP00000287538   ENSP00000359638  
    Reactome Protein details: O60481

    ZIC3 Human Recombinant Protein Products:

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    Novus Biologicals ZIC3 Proteins
    Novus Biologicals ZIC3 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    ZIC3 Antibody Products:

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    ZIC3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ZIC3
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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 O60481

    ProtoNet protein and cluster: O60481

    1 Blocks protein domain: IPB007086 C2H2-type zinc finger signature

    UniProtKB/Swiss-Prot: ZIC3_HUMAN, O60481
    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


    ZIC3 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZIC3_HUMAN, O60481
    Function: Acts as transcriptional activator. Required in the earliest stages in both axial midline development and
    left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'

         Genatlas biochemistry entry for ZIC3:
    zinc finger protein of the cerebellum,mouse Zic homolog

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IDA17764085
    GO:0005515protein binding IPI17764085
    GO:0043565sequence-specific DNA binding IDA17764085
    GO:0046872metal ion binding IEA--
         
    ZIC3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ZIC3:
     Low eccentricity cells 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Zic3) (see all 18):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  immune system  limbs/digits/tail 
     liver/biliary system  mortality/aging  nervous system  normal  reproductive system 

    ZIC3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Zic3tm1Jwb for ZIC3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ZIC3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ZIC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ZIC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ZIC3

    miRNA
    Products:
        
    miRTarBase miRNAs that target ZIC3:
    hsa-mir-155-5p (MIRT000976)

    Block miRNA regulation of human, mouse, rat ZIC3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ZIC3 (see all 50):
    hsa-miR-136 hsa-miR-429 hsa-miR-4328 hsa-let-7a-2* hsa-miR-3653 hsa-miR-570 hsa-miR-105 hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidZIC3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ZIC3
    Predesigned siRNA for gene silencing in human, mouse, rat ZIC3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ZIC3

    Clone
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    OriGene clones in human, mouse for ZIC3 (see all 6)
    OriGene ORF clones in mouse, rat for ZIC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ZIC3 (NM_003413)
    Sino Biological Human cDNA Clone for ZIC3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ZIC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZIC3

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    Browse ESI BIO Cell Lines and PureStem Progenitors for ZIC3 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZIC3


    (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
    ZIC3_HUMAN, O60481: Nucleus. Cytoplasm (By similarity). Note=Localizes in the cytoplasm in presence of MDFIC
    overexpression (By similarity). Translocation to the nucleus requires KPNA1 or KPNA6
    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--

    ZIC3 for ontologies           About GeneDecksing


    (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 ZIC3 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ZIC3
        Transcriptional Regulatory Network in Embryonic Stem Cell


    2 Reactome Pathways for ZIC3
        POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
    Transcriptional regulation of pluripotent stem cells



    ZIC3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZIC3
    Interactions:

        GeneGlobe Interaction Network for ZIC3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for ZIC3 (O604813 ENSP000002875384) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLI3P100713I2D: score=1 
    ZIC2ENSP000003655144STRING: ENSP00000365514
    TCF7L1ENSP000002821114STRING: ENSP00000282111
    TCF7L2ENSP000003584044STRING: ENSP00000358404
    --ENSP000003792554STRING: ENSP00000379255
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001947heart looping IMP9354794
    GO:0006351transcription, DNA-templated IEA--
    GO:0007368determination of left/right symmetry IMP9354794
    GO:0007389pattern specification process ----
    GO:0009952anterior/posterior pattern specification IEA--

    ZIC3 for ontologies           About GeneDecksing



    (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 ZIC3

    1 HMDB Compound for ZIC3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ZincZinc (see all 2)7440-66-6--

    1 Novoseek inferred chemical compound relationship for ZIC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 55.9 13 17295247 (3), 17468179 (2), 17764085 (2), 12900569 (1) (see all 8)



    ZIC3 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ZIC3 gene: 
    NM_003413.3  

    Unigene Cluster for ZIC3:

    Zic family member 3
    Hs.111227  [show with all ESTs]
    Unigene Representative Sequence: NM_003413
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287538(uc004fak.3) ENST00000370606 ENST00000478471
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ZIC3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ZIC3 (see all 50):
    hsa-miR-136 hsa-miR-429 hsa-miR-4328 hsa-let-7a-2* hsa-miR-3653 hsa-miR-570 hsa-miR-105 hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidZIC3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ZIC3
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    GenScript: all cDNA clones in your preferred vector: ZIC3 (NM_003413)
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      QuantiTect SYBR Green Assays in human, mouse, rat ZIC3
      QuantiFast Probe-based Assays in human, mouse, rat ZIC3

    Additional mRNA sequence: 

    AF028706.1 BC113393.1 BC113395.1 EU532020.1 

    4 DOTS entries:

    DT.409363  DT.91716849  DT.121295510  DT.121295509 

    15 AceView cDNA sequences:

    BX101412 NM_003413 BM698023 BM667189 AA227260 BM721342 BM677080 CD652819 
    AF028706 AI916974 AW590846 AA446373 AA219687 AA232470 AA219596 

    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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    ZIC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTGTAGGC
    ZIC3 Expression
    About this image


    ZIC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Somite (Muscoskeletal System)    fully expand to see all 17 entries
             Cervical Dermomyotome Cells Cervical Dermomyotome
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 16 entries
             Cervical Dermomyotome Cells Cervical Dermomyotome
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Meningeal Cells Anterior Meninges
             Thalamus
     
     Adipose (Muscoskeletal System)    fully expand to see all 4 entries
             Cervical Dermomyotome Cells Cervical Dermomyotome
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 7 entries
             ES03(HES-3)
    ZIC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZIC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.111227
        Custom PCR Arrays for ZIC3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZIC3

    (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 animals.

    Orthologs for ZIC3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zic31 , 5 zinc finger protein of the cerebellum 31, 5 93.06(n)1
    98.5(a)1
      X (32.56 cM)5
    227731  NM_009575.21  NP_033601.21 
     580227005 
    chicken
    (Gallus gallus)
    Aves ZIC31 Zic family member 3 80.85(n)
    87.5(a)
      422251  XM_420237.4  XP_420237.4 
    African clawed frog
    (Xenopus laevis)
    Amphibia zic3-A2 Zic family member 3 heterotaxy 1 (odd-paired homolog, more 81.58(n)    AB005292.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zic31 zic family member 3 heterotaxy 1 (odd-paired homolog, more 71.23(n)
    79.37(a)
      368263  NM_001001950.2  NP_001001950.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta opa3 midgut development specific RNA
    polymerase II more
    68(a)
    (best of 2)
      3 82E1   --


    ENSEMBL Gene Tree for ZIC3 (if available)
    TreeFam Gene Tree for ZIC3 (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 ZIC3 gene
    MTF12  ZNF4102  ZNF762  GLI12  ZIC22  ZIC12  GLIS22  GLI22  
    ZIC42  GLIS12  ZNF1432  GLIS32  ZIC52  GLI32  
    7 SIMAP similar genes for ZIC3 using alignment to 1 protein entry:     ZIC3_HUMAN:
    ZIC1    ZIC2    ZIC4    ZNF    ZNF702P    ZNF323
    ZNF137P

    ZIC3 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), 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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    Selected SNPs for ZIC3 (see all 91)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0256334
    Heterotaxy, visceral, 1, X-linked (HTX1)4--see VAR_0256332 C S mis40--------
    VAR_0256324
    Congenital heart defects, multiple types, 1, X-linked (CHTD1)4--see VAR_0256322 P A mis40--------
    VAR_0256354
    Heterotaxy, visceral, 1, X-linked (HTX1)4--see VAR_0256352 K E mis40--------
    VAR_0424164
    Heterotaxy, visceral, 1, X-linked (HTX1)4--see VAR_0424162 W G mis40--------
    VAR_0256344
    Heterotaxy, visceral, 1, X-linked (HTX1)4--see VAR_0256342 H R mis40--------
    VAR_0077534
    Heterotaxy, visceral, 1, X-linked (HTX1)4--see VAR_0077532 T M mis40--------
    rs1048949631,2
    C,Fpathogenic1136607552(+) AGTTTC/GCTAAC 2 P A mis11Minor allele frequency- G:0.01NA 3052
    rs1048949601,2
    Cpathogenic1136607648(+) TCAAGC/TAGGAG 2 Q * stg10--------
    rs1048949621,2
    Cpathogenic1136609228(+) TGCGCA/GAACAC 2 K E mis10--------
    rs128437721,2
    C,F--136606179(+) GGCCGT/CGGCTG 1 -- us2k13Minor allele frequency- C:0.00NA 5

    HapMap Linkage Disequilibrium report for ZIC3 (136648301 - 136659850 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ZIC3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv522544CNV Gain19592680

    Human Gene Mutation Database (HGMD): ZIC3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ZIC3
    DNA2.0 Custom Variant and Variant Library Synthesis for ZIC3

    (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: 300265   
    OMIM disorders: 306955  314390  
    UniProtKB/Swiss-Prot: ZIC3_HUMAN, O60481
  • Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]: A form of visceral heterotaxy, a complex disorder
    due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs
    ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen,
    and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one
    another. It can been associated with variety of congenital defects including cardiac malformations. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390]: A syndrome
    characterized by a non-random association of congenital defects. Affected individuals manifest vertebral
    anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R)
    such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia,
    radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are
    associated with increased chromosome breakage and rearrangement. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]: A disorder characterized by
    congenital developmental abnormalities involving structures of the heart. Common defects include transposition of
    the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and
    patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure,
    chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be
    due to the anatomic defect itself or to surgical interventions. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for ZIC3 (see all 37):    
    About MalaCards
    zic3-related visceral heterotaxy    visceral heterotaxy    vacterl association, x-linked, with or without hydrocephalus    vacterl association, x-linked
    dextrocardia    x-linked visceral heterotaxy 1    congenital heart defects, nonsyndromic, 1, x-linked    pulmonic stenosis
    isolated congenitally uncorrected transposition of the great arteries    congenital heart defect    vacterl association    transposition of the great arteries
    imperforate anus    heterotaxy    goldenhar syndrome    hydronephrosis
    omphalocele    pallister-hall syndrome    ventricular septal defect    tracheoesophageal fistula

    2 diseases from the University of Copenhagen DISEASES database for ZIC3:
    Situs inversus     Congenital heart defect

    ZIC3 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for ZIC3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neural tube defects 62.3 2 12900569 (1), 14679585 (1)
    heart defects congenital 57.1 7 14681828 (2), 12900569 (1), 15470371 (1), 17295247 (1)
    congenital heart disease 50.3 2 12900569 (1), 19933292 (1)
    congenital malformation 26.1 1 10861288 (1)

    Genetic Association Database (GAD): ZIC3
    Human Genome Epidemiology (HuGE) Navigator: ZIC3 (2 documents)

    Export disorders for ZIC3 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)
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    PubMed articles for ZIC3 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with ZIC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the interactions of human ZIC3 mutants with GLI3. (PubMed id 17764085)1, 2, 9 Zhu L.... Belmont J.W. (Hum. Mutat. 2008)
    2. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. (PubMed id 14681828)1, 2, 9 Ware S.M.... Belmont J.W. (Am. J. Hum. Genet. 2004)
    3. Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. (PubMed id 17295247)1, 2, 9 Chhin B.... Bouvagnet P. (Hum. Mutat. 2007)
    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. Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease. (PubMed id 21858219)1, 2 Bedard J.E.... Ware S.M. (PLoS ONE 2011)
    6. Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. (PubMed id 18716025)1, 2 Hatayama M....Aruga J. (Hum. Mol. Genet. 2008)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. 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)
    10. X-linked situs abnormalities result from mutations in ZIC3. (PubMed id 9354794)1, 2 Gebbia M.... Casey B. (Nat. Genet. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 7547 HGNC: 12874 AceView: ZIC3 Ensembl:ENSG00000156925 euGenes: HUgn7547
    ECgene: ZIC3 H-InvDB: ZIC3

    (According to HUGE)
    About This Section

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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)
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    NameDescription
    PharmGKB entry for ZIC3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ZIC3[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 ZIC3 gene:
    Search GeneIP for patents involving ZIC3

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



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