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

ZIC3 Gene

protein-coding   GIFtS: 62
GCID: GC0XP136648

Zic family member 3

(Previous names: heterotaxy 1, Zic family member 3 (odd-paired homolog,...)
(Previous symbol: HTX1)
 Explore 22 diseases affiliated with
ZIC3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ZIC3    

Aliases
for ZIC3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Zic Family Member 31 2     Zic Family Member 3 (Odd-Paired Homolog, Drosophila)1 2
ZNF2031 2 3     Zinc Finger Protein 2032 3
HTX1 2 5     Zinc Finger Protein Of The Cerebellum 32 3
HTX11 2 5     VACTERLX2
Heterotaxy 11 2     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


Summaries
for ZIC3 gene

(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 ZIC3:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011786.16  
Regulatory elements:
   SABiosciences 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 plasmid: ZIC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZIC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ZIC3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus. Cytoplasm (By similarity). Note=Localizes in the cytoplasm in presence of MDFIC
overexpression (By similarity). Translocation to the nucleus requires KPNA1 or KPNA6
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60481

    • ZIC3 Protein expression data from MOPED and PaxDb:    About this image 
    ZIC3 Protein Expression
    REFSEQ proteins: NP_003404.1  
    ENSEMBL proteins: 
     ENSP00000287538   ENSP00000359638  

    Human Recombinant Protein Products for ZIC3: 
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    OriGene Protein Over-expression Lysate: ZIC3
    OriGene Custom Protein Services for ZIC3 
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    Novus Biologicals ZIC3 Proteins
    Novus Biologicals ZIC3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ZIC3

    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--

    ZIC3 for ontologies           About GeneDecksing



    ZIC3 Antibody Products: 
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    Assay Products for ZIC3: 
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    Uscn ELISAs and CLIAs for ZIC3

    Protein Domains /
    Families
    for ZIC3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ZIC3 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    Function
    for ZIC3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IDA17764085
    GO:0005515protein binding IPI18716025
    GO:0008270zinc ion binding IEA--
    GO:0043565sequence-specific DNA binding IDA17764085
         
    ZIC3 for ontologies           About GeneDecksing


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

         15/16 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Zic3) (see all 16):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size 
     hearing/vestibular/ear  hematopoietic system  immune system  limbs/digits/tail  liver/biliary system 
     mortality/aging  nervous system  reproductive system  respiratory system  skeleton 

    ZIC3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ZIC3 

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

    OriGene 3'-UTR Clone: ZIC3
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ZIC3
    8/50 QIAGEN miScript miRNA 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 plasmid: ZIC3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ZIC3 (see all 7)
    OriGene shRNA RFP: ZIC3
    OriGene siRNA: ZIC3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ZIC3
    Sirion Biotech Custom design and validation of potent shRNA sequences against ZIC3 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ZIC3
    Sirion Biotech Customized adenovirus for overexpression of ZIC3 
    Sirion Biotech Customized adenovirus for potent knockdown of ZIC3

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZIC3 (see all 3)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ZIC3 (NM_003413)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZIC3 

    Cell Line
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    Search LifeMap BioReagents cell lines for ZIC3
    Sirion Biotech Customized stable knockdown cell line services for ZIC3 
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZIC3


    Pathways & Interactions
    for ZIC3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcriptional Regulatory Network in Embryonic Stem Cell
    		Transcriptional Regulatory Network in Embryonic Stem Cell1.00

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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ZIC3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

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

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

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

    ZIC3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ZIC3 gene

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

    ZIC3 for compounds           About GeneDecksing

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

    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 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)

    Search CenterWatch for drugs/clinical trials and news about ZIC3 

    Transcripts
    for ZIC3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 OriGene 3'-UTR Clone: ZIC3
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ZIC3
    8/50 QIAGEN miScript miRNA 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 plasmid: ZIC3 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ZIC3 (see all 7)
    OriGene shRNA RFP: ZIC3
    OriGene siRNA: ZIC3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ZIC3
    Sirion Biotech Custom design and validation of potent shRNA sequences against ZIC3 
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ZIC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZIC3 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ZIC3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZIC3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZIC3

    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    15 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for ZIC3 gene

    (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

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

    ZIC3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/34 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 34) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainAnterior MeningesMeningeal CellsMeninges
    SomiteCervical DermomyotomeCervical Dermomyotome CellsAdipose, Skeletal Muscle
    SomiteLumbar DermomyotomeLumbar Dermomyotome CellsAdipose, Skeletal Muscle
    SomiteSacral DermomyotomeSacral Dermomyotome CellsAdipose, Skeletal Muscle
    SomiteThoracic DermomyotomeThoracic Dermomyotome CellsAdipose, Skeletal Muscle
    BrainAnterior MeningesMeningeal Progenitor CellsMeninges
    BrainAnterior Pia MaterMeningeal FibroblastsMeninges
    BrainChoroid PlexusChoroid Plexus Progenitor CellsChoroid Plexus
    Skeletal MuscleThoracic Epaxial MyotomeMyoblastsSkeletal Muscle
    SomiteCervical Dorsomedial Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    Induced pluripotent stem cell line hIPS1 (Induced Pluripotent Stem Cell)Early Embryo, Fibroblast
    Induced pluripotent stem cell line hIPS2 (Induced Pluripotent Stem Cell)Early Embryo, Fibroblast
    Line H7 (WA07) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Definitive endoderm-like cells (A scalable, suspensi...)
    Matrigel embedded cells (Derivation of cardio...)

    See ZIC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZIC3

    SOURCE GeneReport for Unigene cluster: Hs.111227
        SABiosciences Custom PCR Arrays for ZIC3
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZIC3
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZIC3

    Orthologs
    for ZIC3 gene

    (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 ZIC3 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ZIC31 Zic family member 3 heterotaxy 1 (odd-paired homolog, more 80.56(n)
    86.9(a)    		   422251  XM_420237.3  XP_420237.3 
    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   --
    worm
    (Caenorhabditis elegans)    		 Secernentea ref-26
    		 REgulator of Fusion family member (ref-2)
    		 32(a)
    		 possible ortholog
    		 X(7744188-7749959)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G066346
    		 uncharacterized zinc finger protein
    		 15(a)
    		 1 → many
    		 4(3764289-3766578)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 ZOS5-01 - C2H2 zinc finger protein, expressed
    		 17(a)
    14(a)
    		 many ↔ many
    many ↔ many
    		 2(20795085-20798606)
    5(321102-324421)


    ENSEMBL Gene Tree for ZIC3 (if available)
    TreeFam Gene Tree for ZIC3 (if available) 

    Paralogs
    for ZIC3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZIC3 gene
    ZNF762  GLI12  ZIC22  YY12  ZIC12  GLIS22  GLI22  ZNF1432  
    GLI32  YY22  MTF12  ZNF4102  ZFP422  GLIS12  ZIC42  GLIS32  
    ZIC52  
    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



    Genomic Variants
    for ZIC3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/79 NCBI SNPs in ZIC3 are shown (see all 79)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048949631,2
    		C,Fpathogenic125918143(+) AGTTTC/GCTAAC 2 P A mis11Minor allele frequency- G:0.01NA 3052
    rs1048949601,2
    		Cpathogenic125918239(+) TCAAGC/TAGGAG 2 Q * stg10--------
    rs726162111,2
    		C--125915031(+) AGCGCC/TCCCCT 2 -- us2k1 int10--------
    rs413127671,2
    		C--125915370(+) GATGTC/TCTATT 2 -- us2k1 int10--------
    rs617351571,2
    		F--125917569(+) CACCAC/GGAGAT 2 H Q mis12Minor allele frequency- G:0.02NS CSA 79
    rs736339501,2
    		C--125919138(+) GGATCT/GATCGA 1 -- int11Minor allele frequency- G:0.00WA 2
    rs1048949621,2
    		C--125919857(+) TGCGCA/GAACAC 2 K E mis10--------
    rs413002851,2
    		C--125922062(+) ATAAAA/GATGAA 1 -- ut310--------
    rs1130570361,2
    		C--125922896(+) TTTATC/GTTATA 1 -- ut310--------
    rs1930072971,2
    		--136646390(+) GCCCCA/CCTACC 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for ZIC3 (136648301 - 136659850 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ZIC3: --
    Human Gene Mutation Database (HGMD): ZIC3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZIC3
    DNA2.0 Custom Variant and Variant Library Synthesis for ZIC3

    Disorders / Diseases
    for ZIC3 gene

    (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.)
    About This Section
    ZIC3 for disorders           About GeneDecksing

    OMIM gene information: 300265   
    OMIM disorders: 306955  
    UniProtKB/Swiss-Prot: ZIC3_HUMAN, O60481
  • Defects in ZIC3 are the cause of visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]. A form of visceral
    • heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It
    results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of
    visceral heterotaxy X-linked type 1 include dextrocardia, corrected transposition of great arteries, ventricular
    septal defect, patent ductus arteriosus, pulmonic stenosis, situs inversus viscerum, and asplenia and/or polysplenia
  • Defects in ZIC3 are a cause of VACTERL association X-linked with or without hydrocephalus (VACTERLX)
    • [MIM:314390]. A syndrome characterized by vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal
    fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (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
  • Defects in ZIC3 are the cause of 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 CHTD1 also have cardiac
    arrhythmias, which may be due to the anatomic defect itself or to surgical interventions

    20/22 diseases for ZIC3 (see all 22):    About MalaCards
    heterotaxy    visceral heterotaxy    congenital heart defects, nonsyndromic, 1, x-linked    vacterl association, x-linked, with or without hydrocephalus
    neural tube defect    pallister-hall syndrome    congenital heart defect    vacterl association
    tracheoesophageal fistula    transposition of great arteries    situs ambiguus    imperforate anus
    pulmonic stenosis    situs inversus    goldenhar syndrome    dextrocardia
    hydrocephalus    hydronephrosis    urethritis    meningioma

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

    4 Novoseek 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

    Publications
    for ZIC3 gene

    (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 ZIC3 gene, integrated from 9 sources (see all 40):
    (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. (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. (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. (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. (2004)
    5. Identification of a novel ZIC3 isoform and mutation s creening in patients with heterotaxy and congenital heart disease. (PubMed id 21858219)1, 2 Bedard J.E....Ware S.M. (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. (2008)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (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. (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. (2003)
    10. X-linked situs abnormalities result from mutations in ZIC3. (PubMed id 9354794)1, 2 Gebbia M.... Casey B. (1997)

    External Searches for ZIC3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ZIC3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7547 HGNC: 12874 AceView: ZIC3 Ensembl:ENSG00000156925 euGenes: HUgn7547
    ECgene: ZIC3 H-InvDB: ZIC3

    Other Databases showing ZIC3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ZIC3 gene

    (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 ZIC3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ZIC3

    Intellectual Property
    for ZIC3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ZIC3 gene:
    Search GeneIP for patents involving ZIC3

    GeneCards and IP:
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    About This Section

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