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

ZIC1 Gene

protein-coding   GIFtS: 63
GCID: GC03P147111

Zic Family Member 1

(Previous names: Zic family member 1 (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 11 2     ZNF2012 3
Zic Family Member 1 (Odd-Paired Homolog, Drosophila)1 2     Zinc Finger Protein Of The Cerebellum 12 3
Zinc Finger Protein 2012 3     Zic Family Member 1 (Odd-Paired Drosophila Homolog)1
ZIC2 3     Zinc Finger Protein ZIC 12

External Ids:    HGNC: 128721   Entrez Gene: 75452   Ensembl: ENSG000001529777   OMIM: 6004705   UniProtKB: Q159153   

Export aliases for ZIC1 gene to outside databases

Previous GC identifers: GC03P143961 GC03P148012 GC03P148408 GC03P148448 GC03P148609 GC03P144503


(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 ZIC1 Gene:
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are
important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain
tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family
member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the
apolipoprotein E gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ZIC1 Gene: 
ZIC1 (Zic family member 1) is a protein-coding gene. Diseases associated with ZIC1 include cerebellar degeneration, and paraneoplastic neurologic disorders. GO annotations related to this gene include DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MTF1.

UniProtKB/Swiss-Prot: ZIC1_HUMAN, Q15915
Function: Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage
of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum.
Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a
role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar
territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in
the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity)

Gene Wiki entry for ZIC1 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_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZIC1 gene promoter:
         Pbx1a   USF-1:USF-2   Nkx2-5   PPAR-gamma1   SRY   POU2F1   USF-1   POU2F1a   IRF-7A   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZIC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZIC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZIC1


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

Entrez Gene cytogenetic band: 3q24   Ensembl cytogenetic band:  3q24   HGNC cytogenetic band: 3q24

ZIC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZIC1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P147111:  view genomic region     (about GC identifiers)

Start:
147,111,209 bp from pter      End:
147,228,080 bp from pter
Size:
116,872 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: ZIC1_HUMAN, Q15915 (See protein sequence)
Recommended Name: Zinc finger protein ZIC 1  
Size: 447 amino acids; 48309 Da
Subunit: Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5).
Interacts with GLI1; the interaction enhances transcription activation. Interacts with GLI2. Interacts with GLI3;
the interaction enhances transcription activation (By similarity)
Subcellular location: Nucleus. Cytoplasm (By similarity). Note=Localizes in the cytoplasm in presence of MDFIC
overexpression (By similarity)
Secondary accessions: Q2M3N1

Explore the universe of human proteins at neXtProt for ZIC1: NX_Q15915

Explore proteomics data for ZIC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15915

  • ZIC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZIC1 Protein Expression
    REFSEQ proteins: NP_003403.2  
    ENSEMBL proteins: 
     ENSP00000419664   ENSP00000282928  

    Human Recombinant Protein Products for ZIC1: 
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    Novus Biologicals ZIC1 Protein
    Novus Biologicals ZIC1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ZIC1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    ZIC1 for ontologies           About GeneDecksing



    ZIC1 Antibody Products: 
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    Cloud-Clone Corp. Antibodies for ZIC1 
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    LSBio Antibodies in human, mouse, rat for ZIC1 

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    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ZIC1 
    Cloud-Clone Corp. CLIAs for ZIC1


    (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 Q15915

    ProtoNet protein and cluster: Q15915

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

    UniProtKB/Swiss-Prot: ZIC1_HUMAN, Q15915
    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


    ZIC1 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: ZIC1_HUMAN, Q15915
    Function: Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage
    of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum.
    Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a
    role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar
    territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in
    the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity)

         Genatlas biochemistry entry for ZIC1:
    zinc finger protein of the cerebellum,mouse Zic homolog,potential marker for medulloblastoma and cellular granular
    cell lineage

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS8542595
    GO:0005515protein binding ----
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    ZIC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ZIC1:
     Decreased Wnt reporter activit 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Zic1):
     behavior/neurological  growth/size  mortality/aging  muscle  nervous system 
     skeleton 

    ZIC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ZIC1: Zic1/Zic4Zic1/tm1Kjmi Zic1tm1Jaru

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ZIC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ZIC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ZIC1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ZIC1 

    miRNA
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    hsa-miR-579 hsa-miR-323-3p hsa-miR-548j hsa-miR-300 hsa-miR-106a hsa-miR-632 hsa-miR-3653 hsa-miR-3122
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    LifeMap BioReagents: cell line associated with ZIC1: PureStem Progenitor E68
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZIC1


    (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 ZIC1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    2Neural Crest Differentiation
    Neural Crest Differentiation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ZIC1
        Transcription factors in neurogenesis


    1 BioSystems Pathway for ZIC1
        Neural Crest Differentiation



    ZIC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ZIC1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for ZIC1 (Q159153 ENSP000002829284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLI1P081513, ENSP000002286824I2D: score=2 STRING: ENSP00000228682
    GLI2P100703, ENSP000003545864I2D: score=2 STRING: ENSP00000354586
    GLI3P100713I2D: score=1 
    --ENSP000003792554STRING: ENSP00000379255
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007389pattern specification process ISS--
    GO:0007417central nervous system development ----
    GO:0007420brain development IDA8542595
    GO:0007610behavior ISS--

    ZIC1 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

    ZIC1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ZIC1

    1 Novoseek inferred chemical compound relationship for ZIC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 53.8 22 7931345 (3), 16574373 (2), 11238441 (2), 11053430 (2) (see all 14)

    Search CenterWatch for drugs/clinical trials and news about ZIC1

    (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 ZIC1 gene: 
    NM_003412.3  

    Unigene Clusters for ZIC1:

    Zic family member 1
    Hs.598590 , Hs.647962  [show with all ESTs]
    Unigene Representative Sequences: U79264, NM_003412
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472523 ENST00000488404 ENST00000282928(uc003ewe.3) ENST00000474034
    ENST00000481840
    miRNA
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    8/116 QIAGEN miScript miRNA Assays for microRNAs that regulate ZIC1 (see all 116):
    hsa-miR-579 hsa-miR-323-3p hsa-miR-548j hsa-miR-300 hsa-miR-106a hsa-miR-632 hsa-miR-3653 hsa-miR-3122
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZIC1

    Additional mRNA sequence: 

    BC104848.1 BC104850.1 

    2 DOTS entries:

    DT.308923  DT.120918334 

    24/27 AceView cDNA sequences (see all 27):

    BQ187871 NM_003412 BE047875 H88479 AA569960 AA443320 BQ186222 AW275004 
    D76435 CA336098 BQ027790 BE501345 AW022181 BC041954 AW292953 U79264 
    AI367357 BI598990 AI358916 AW235209 AI963983 AW956214 H88478 BQ345031 

    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

    ZIC1 expression in normal human tissues (normalized intensities)      ZIC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAATAGTGG
    ZIC1 Expression
    About this image


    ZIC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Brain (Nervous System)    fully expand to see all 33 entries
             Meningeal Cells Anterior Meninges
             Thalamus
             cerebellum   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 30 entries
             Prechondrocytic Mesenchymal Cells Lumbar Intervertebral Disc
     
     Bone (Muscoskeletal System)    fully expand to see all 26 entries
             Prechondrocytic Mesenchymal Cells Cervical Spinous Process Of Vertebrae
     
     Somite (Muscoskeletal System)    fully expand to see all 21 entries
             Myoblasts Cervical Epaxial Myotome
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 17 entries
             Myoblasts Cervical Epaxial Myotome

    See ZIC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZIC1

    SOURCE GeneReport for Unigene clusters: Hs.598590 Hs.647962

    UniProtKB/Swiss-Prot: ZIC1_HUMAN, Q15915
    Tissue specificity: CNS. A high level expression is seen in the cerebellum. Detected in the nuclei of the
    cerebellar granule cell lineage from the progenitor cells of the external germinal layer to the postmigrated
    cells of the internal granular layer. Detected in medulloblastoma (26/29 cases), but not present in all other
    tumors examined

        SABiosciences Expression via Pathway-Focused PCR Arrays including ZIC1: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZIC1

    (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 animals.

    Orthologs for ZIC1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zic11 , 5 zinc finger protein of the cerebellum 11, 5 90.83(n)1
    99.33(a)1
      9 (48.26 cM)5
    227711  NM_009573.31  NP_033599.21 
     913580585 
    chicken
    (Gallus gallus)
    Aves ZIC11 Zic family member 1 83.11(n)
    94.14(a)
      374103  NM_204254.1  NP_989585.1 
    lizard
    (Anolis carolinensis)
    Reptilia ZIC16
    --
    --
    89(a)
    58(a)
    1 ↔ 1
    possible ortholog
    3(19986827-19992389)
    3(19999913-20010193)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.17962 Xenopus laevis mRNA for Zic1 protein, complete cds 81.61(n)    AF028805.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zic12 zic1 82.24(n)   30096  AF052435.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta opa3 midgut development specific RNA
    polymerase II more
    66(a)
    (best of 2)
      3 82E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea ref-26
    Protein REF-2, isoform b
    37(a)
    1 → many
    X(7744239-7750010)


    ENSEMBL Gene Tree for ZIC1 (if available)
    TreeFam Gene Tree for ZIC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZIC1 gene
    MTF12  ZIC32  ZNF4102  ZNF762  GLI12  ZIC22  GLIS22  GLI22  
    ZIC42  GLIS12  ZNF1432  GLIS32  ZIC52  GLI32  
    18/77 SIMAP similar genes for ZIC1 using alignment to 2 protein entries:     ZIC1_HUMAN (see all proteins) (see all similar genes):
    ZIC2    ZIC3    ZIC4    MECOM    YY1    ZNF628
    ZNF888    KLF4    DKFZp686N0199    HZF16    ZNF878    ZNF573
    ZNF324    ZNF84    KLF1    PRDM16    PRMD9    ZNF19

    ZIC1 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

    10/151 SNPs in ZIC1 are shown (see all 151)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1827406021,2
    C--147112896(+) CACAGA/GTCCGG 1 -- int10--------
    rs1999862421,2
    C--147112909(+) CAGTT-/AAAAAA 1 -- int10--------
    rs1379686951,2
    --147113057(+) AGACTA/TCGGGT 1 -- int10--------
    rs1870686421,2
    --147113108(+) TCTCCA/GGCCCA 1 -- int10--------
    rs1142243721,2
    C,F--147113175(+) CCAGGG/AGATGC 1 -- int11Minor allele frequency- A:0.08NA 120
    rs1928545441,2
    --147113195(+) GGGAGG/TGGGCA 1 -- int10--------
    rs1435396781,2
    --147113246(+) CAAACA/GTGAAA 1 -- int10--------
    rs1846507351,2
    --147113454(+) TTATTA/GACGTT 1 -- int10--------
    rs2012903081,2
    --147113548(+) AACGGC/TCGCGG 1 -- int10--------
    rs2011000621,2
    C--147113578(+) CCCTCT/CCATTC 1 -- int11Minor allele frequency- C:0.00EU 1249

    HapMap Linkage Disequilibrium report for ZIC1 (147111209 - 147228080 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ZIC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv822285CNV Gain20364138


    Human Gene Mutation Database (HGMD): ZIC1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ZIC1
    DNA2.0 Custom Variant and Variant Library Synthesis for ZIC1

    (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: 600470   
    OMIM disorders: 220200  
    18 diseases for ZIC1:    About MalaCards
    cerebellar degeneration    paraneoplastic neurologic disorders    paraneoplastic cerebellar degeneration    dandy-walker syndrome
    medulloblastoma    spina bifida    holoprosencephaly    neural tube defects
    joubert syndrome    oral squamous cell carcinoma    liposarcoma    meningioma
    squamous cell carcinoma    gastric cancer    cerebritis    lung cancer
    neuronitis    colorectal cancer

    4 diseases from the University of Copenhagen DISEASES database for ZIC1:
    Spina bifida     Holoprosencephaly     blepharophimosis, ptosis, and epicanthus inversus syndrome     Medulloblastoma

    ZIC1 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for ZIC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    holoprosencephaly 78.1 5 15207846 (1), 17251188 (1), 11699604 (1), 15733262 (1) (see all 5)
    neural tube defects 57.8 2 14679585 (1), 15733262 (1)
    cerebellar dysfunction 57.1 1 12499499 (1)
    medulloblastoma 52.1 8 8542595 (3), 20199689 (2), 12499499 (2)
    spina bifida 35.3 1 11699604 (1)
    congenital malformation 34.1 4 15207846 (1), 10861288 (1), 15733262 (1)
    neurological disorders 28.8 4 11699604 (1), 12499499 (1), 8542595 (1)
    autoimmunity 10.9 1 15007130 (1)
    tumors 0 12 19135984 (2), 9879461 (1), 20199689 (1), 8542595 (1) (see all 5)

    Genetic Association Database (GAD): ZIC1
    Human Genome Epidemiology (HuGE) Navigator: ZIC1 (2 documents)

    Export disorders for ZIC1 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 ZIC1 gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with ZIC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Predominant expression of human zic in cerebellar granule cell lineage and medulloblastoma. (PubMed id 8542595)1, 2, 3, 9 Yokota N.... Mikoshiba K. (1996)
    2. 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)
    3. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (2008)
    4. ZIC1 is downregulated through promoter hypermethylation in gastric cancer. (PubMed id 19135984)1, 9 Wang L.J....Sung J.J. (2009)
    5. Physical and functional interactions between Zic and Gli proteins. (PubMed id 11238441)1, 9 Koyabu Y....Mikoshiba K. (2001)
    6. ZIC1 gene expression is controlled by DNA and histone methylation in mesenchymal proliferations. (PubMed id 17936758)1, 9 Pourebrahim R....Tejpar S. (2007)
    7. Expression of ZIC family genes in meningiomas and oth er brain tumors. (PubMed id 20199689)1, 9 Aruga J....Yokota N. (2010)
    8. Transcription factors Zic1 and Zic2 bind and transactivate the apolipoprotein E gene promoter. (PubMed id 11038359)1, 9 Salero E....Zafra F. (2001)
    9. Inhibition of translation in living eukaryotic cells by an RNA G-quadruplex motif. (PubMed id 18515550)1, 9 Arora A....Kurreck J. (2008)
    10. The ZIC gene family in development and disease. (PubMed id 15733262)1, 9 Grinberg I. and Millen K.J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7545 HGNC: 12872 AceView: ZIC1 Ensembl:ENSG00000152977 euGenes: HUgn7545
    ECgene: ZIC1 H-InvDB: ZIC1

    (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 ZIC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ZIC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ZIC1 gene:
    Search GeneIP for patents involving ZIC1

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



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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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