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GLI3 Gene

protein-coding   GIFtS: 70
GCID: GC07M042000

GLI Family Zinc Finger 3

(Previous names: Greig cephalopolysyndactyly syndrome, GLI-Kruppel family...)
(Previous symbols: GCPS, PHS)
  See GLI3-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
GLI Family Zinc Finger 31 2     PAPB2 5
GCPS1 2     DNA-Binding Protein1
PHS1 2     Greig Cephalopolysyndactyly Syndrome1
GLI-Kruppel Family Member GLI31 2     ACLS2
Glioma-Associated Oncogene Family Zinc Finger 31 2     PAP-A2
Oncogene GLI31 2     PAPA12
Zinc Finger Protein GLI31 2     PPDIV2
GLI3-1902 3     Transcriptional Activator GLI32
GLI3FL2 3     GLI3 Form Of 190 KDa3
PAPA2 5     GLI3 Full Length Protein3

External Ids:    HGNC: 43191   Entrez Gene: 27372   Ensembl: ENSG000001065717   OMIM: 1652405   UniProtKB: P100713   

Export aliases for GLI3 gene to outside databases

Previous GC identifers: GC07M041650 GC07M041744 GC07M041776 GC07M041970


(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 GLI3 Gene:
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They
are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The
protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene
expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated
with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial
polydactyly type IV, and postaxial polydactyly types A1 and B. (provided by RefSeq, Jul 2008)

GeneCards Summary for GLI3 Gene:
GLI3 (GLI family zinc finger 3) is a protein-coding gene. Diseases associated with GLI3 include gli3-related disorders, and polydactyly preaxial type 4. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MTF1.

UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071
Function: Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway,
and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear
translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A
proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or
the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a
role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in
distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence
5'-GGGTGGTC-3'

Gene Wiki entry for GLI3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GLI3 gene promoter:
         HOXA9B   HOXA9   AhR   Tal-1beta   Arnt   E47   MEF-2A   aMEF-2   Meis-1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): GLI3 promoter sequence
   Search Chromatin IP Primers for GLI3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GLI3


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

Entrez Gene cytogenetic band: 7p13   Ensembl cytogenetic band:  7p14.1   HGNC cytogenetic band: 7p13

GLI3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLI3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M042000:  view genomic region     (about GC identifiers)

Start:
42,000,547 bp from pter      End:
42,277,469 bp from pter
Size:
276,923 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 42,040,400-42,316,460     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: GLI3_HUMAN, P10071 (See protein sequence)
Recommended Name: Transcriptional activator GLI3  
Size: 1580 amino acids; 169863 Da
Subunit: The full-length GLI3 form (GLI3FL) interacts with SUFU and this interaction regulates the formation of
either repressor or activator forms of GLI3. Its association with SUFU is regulated by Hh signaling and
dissociation of the SUFU-GLI3 interaction requires the presence of the ciliary motor KIF3A (By similarity).
Interacts with KIF7. The activator form of GLI3 (GLI3A) but not the repressor form (GLI3R) can interact with
TRPS1. The phosphorylated form interacts with BTRC. Interacts with ZIC1. Interacts with ZIC3 (via C2H2-type
domains 3, 4 and 5); the interaction enhances its transcriptional activity
Sequence caution: Sequence=AAA52564.1; Type=Frameshift; Positions=1549;
1 PDB 3D structure from and Proteopedia for GLI3:
4BLD (3D)    
Secondary accessions: A4D1W1 O75219 Q17RW4 Q75MT0 Q75MU9 Q9UDT5 Q9UJ39

Explore the universe of human proteins at neXtProt for GLI3: NX_P10071

Explore proteomics data for GLI3 at MOPED

Post-translational modifications: 

  • Phosphorylated on multiple sites by protein kinase A (PKA) and phosphorylation by PKA primes further
    phosphorylation by CK1 and GSK3. Phosphorylated by DYRK2 (in vitro). Phosphorylation is essential for its
    proteolytic processing1
  • Transcriptional repressor GLI3R, a C-terminally truncated form, is generated from the full-length GLI3 protein
    (GLI3FL/GLI3-190) through proteolytic processing. This process requires PKA-primed phosphorylation of GLI3,
    ubiquitination of GLI3 and the presence of BTRC. GLI3FL is complexed with SUFU in the cytoplasm and is maintained
    in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient
    processing of GLI3FL into GLI3R. GLI3R formation leads to its dissociation from SUFU, allowing it to translocate
    into the nucleus, and repress Hh target genes. When Hh signaling is initiated, SUFU dissociates from GLI3FL and
    this has two consequences. First, GLI3R production is halted. Second, free GLI3FL translocates to the nucleus,
    where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Phosphorylated in
    vitro by ULK31
  • Ubiquitination2 at Lys773, Lys779, Lys784, Lys800
  • Modification sites at PhosphoSitePlus

  • See GLI3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000159.3  
    ENSEMBL proteins: 
     ENSP00000379258   ENSP00000406135   ENSP00000407963  

    GLI3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for GLI3

     
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    EMD Millipore Mono- and Polyclonal Antibodies for the study of GLI3
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    Novus Biologicals GLI3 Antibodies
    Abcam antibodies for GLI3
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    LSBio Antibodies in human, mouse, rat for GLI3

    GLI3 Assay Products:

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    Cloud-Clone Corp. ELISAs for GLI3
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    Search eBioscience for ELISAs for GLI3 


    (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 P10071

    ProtoNet protein and cluster: P10071

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

    UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071
    Similarity: Belongs to the GLI C2H2-type zinc-finger protein family
    Similarity: Contains 5 C2H2-type zinc fingers


    Find genes that share domains with GLI3           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: GLI3_HUMAN, P10071
    Function: Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway,
    and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear
    translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A
    proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or
    the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a
    role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in
    distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence
    5'-GGGTGGTC-3'

         Genatlas biochemistry entry for GLI3:
    GLI-Kruppel family member GLI3 involved in the development of the CNS,craniofacial structure,limbs,lung,trachea
    and oesophagus,with homology to Drosophila segment polarity gene Cubitus interruptus (CI),more generatly acting
    both as an activator and a repressor as does CI in sonic hedgehog signaling,binding CREBBP,also binding to GLT1
    promoter and inducing its transcription in response to SHH

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA2118997
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA10077605
    GO:0005515protein binding IPI11238441
    GO:0008013beta-catenin binding IPI17331723
         
    Find genes that share ontologies with GLI3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GLI3:
     Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 20 alleles(MGI details for Gli3) (see all 21):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  pigmentation 

    Find genes that share phenotypes with GLI3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GLI3: Gli3tm1.1Alj Gli3tm1Blnw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GLI3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GLI3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GLI3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GLI3

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  CGTGGGTGGTCC 

    miRNA
    Products:
        
    miRTarBase miRNAs that target GLI3:
    hsa-mir-1301-3p (MIRT035969), hsa-mir-148b-3p (MIRT043590), hsa-mir-93-5p (MIRT048909)

    Block miRNA regulation of human, mouse, rat GLI3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GLI3 (see all 55):
    hsa-miR-140-5p hsa-miR-642a hsa-miR-4307 hsa-miR-429 hsa-miR-578 hsa-miR-500a hsa-miR-759 hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): GLI3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GLI3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GLI3 (NM_000168)
    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for GLI3 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLI3


    (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
    GLI3_HUMAN, P10071: Nucleus. Cytoplasm. Cell projection, cilium. Note=GLI3FL is localized predominantly in the
    cytoplasm while GLI3R resides mainly in the nucleus. Ciliary accumulation requires the presence of KIF7 and SMO.
    Translocation to the nucleus is promoted by interaction with ZIC1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10693759
    GO:0005730nucleolus ----
    GO:0005737cytoplasm IDA10077605
    GO:0005829cytosol IDA18559511
    GO:0005929cilium IDA16254602

    Find genes that share ontologies with GLI3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GLI3 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    Hedgehog Pathway0.32
    Hedgehog Signaling Pathway0.32
    2Basal cell carcinoma
    Basal cell carcinoma0.43
    Hedgehog signaling pathway0.43
    3G-Beta Gamma Signaling
    CRHR Pathway0.44
    4TGF-beta Signaling Pathways
    TGF-beta Signaling Pathways
    5Pathways in cancer
    Pathways in cancer


    Find genes that share SuperPaths with GLI3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GLI3
        TGF-beta Signaling Pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GLI3
        CRHR Pathway

    1 Tocris Bioscience Pathway for GLI3
        Hedgehog Pathway

    3 BioSystems Pathways for GLI3
        Hedgehog Signaling Pathway
    Endochondral Ossification
    Hedgehog signaling events mediated by Gli proteins


    3 Kegg Pathways  (Kegg details for GLI3):
        Hedgehog signaling pathway
    Pathways in cancer
    Basal cell carcinoma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GLI3: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GLI3

    Selected Interacting proteins for GLI3 (P100711, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622582, 3MINT-8009523 I2D: score=1 
    BTRCQ9Y2973I2D: score=2 
    SKIP127553I2D: score=2 
    STK36Q9NRP73I2D: score=2 
    SUFUQ9UMX13I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 90):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA10693759
    GO:0001656metanephros development IEA--
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001822kidney development ----

    Find genes that share ontologies with GLI3           About GenesLikeMe



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

    Browse Tocris compounds for GLI3

    1 HMDB Compound for GLI3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ZincZinc (see all 2)7440-66-6--

    1 Novoseek inferred chemical compound relationship for GLI3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 64.9 24 7626222 (3), 9054938 (2), 8688459 (1), 16336945 (1) (see all 18)



    Find genes that share compounds with GLI3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GLI3 gene: 
    NM_000168.5  

    Unigene Cluster for GLI3:

    GLI family zinc finger 3
    Hs.21509  [show with all ESTs]
    Unigene Representative Sequence: NM_000168
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395925(uc011kbg.2 uc011kbh.2) ENST00000479210 ENST00000464291
    ENST00000448703 ENST00000437480 ENST00000428534
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      QuantiFast Probe-based Assays in human, mouse, rat GLI3

    Additional mRNA sequence: 

    AK299299.1 AK308429.1 BC032660.2 BC113616.1 BC117168.1 M57609.1 

    7 DOTS entries:

    DT.412849  DT.95140913  DT.70100752  DT.309655  DT.91721200  DT.91746160  DT.92421910 

    Selected AceView cDNA sequences (see all 64):

    BM552681 BQ668725 CA406166 BG249639 AU123517 AW953518 BU627224 BM459980 
    AA649654 BE221252 BU625637 AI138649 BF194991 AA330409 BV197662 BU631127 
    AA649716 BI830216 BI915087 BE644765 BX426100 AI863961 BG742386 BQ447085 

    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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    GLI3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATACATT
    GLI3 Expression
    About this image


    GLI3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 11 entries
             Prechondrocytic Mesenchymal Cells Annulus Fibrosus
     
     Limb (Muscoskeletal System)    fully expand to see all 8 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
             Limb Bud
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Dorsal Telencephalic Progenitor Cells Dorsal Telencephalon
             Telencephalon
     
     Tooth
             Dental Placode Cells Dental Placode
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Chondrocytes Stylopod Epiphyseal End
    GLI3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GLI3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.21509

    UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071
    Tissue specificity: Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen,
    placenta, testis, and myometrium

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GLI3: 
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    (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 GLI3 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gli31 , 5 GLI-Kruppel family member GLI31, 5 84.77(n)1
    86.65(a)1
      13 (5.43 cM)5
    146341  NM_008130.21  NP_032156.21 
     154632355 
    chicken
    (Gallus gallus)
    Aves GLI31 GLI family zinc finger 3 76.51(n)
    79.63(a)
      420769  NM_001271903.1  NP_001258832.1 
    lizard
    (Anolis carolinensis)
    Reptilia GLI36
    GLI family zinc finger 3
    75(a)
    1 ↔ 1
    6(49909134-50165506)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xgli32 neural specific DNA binding protein 77.16(n)    U42461.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.271212 Danio rerio zinc finger transcription factor Gli3 (gli3) more 74.98(n)    AY377429.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38503   -- 56(a)
    (best of 3)
      49E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea tra-13 Expression: all stages 53(a)   III(11243739-11266707)   --


    ENSEMBL Gene Tree for GLI3 (if available)
    TreeFam Gene Tree for GLI3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GLI3 gene
    MTF12  ZIC32  ZNF4102  ZNF762  GLI12  ZIC22  ZIC12  GLIS22  
    GLI22  ZIC42  GLIS12  ZNF1432  GLIS32  ZIC52  
    Selected SIMAP similar genes for GLI3 using alignment to 3 protein entries:     GLI3_HUMAN (see all proteins) (see all similar genes):
    GLI2    Gli2    DKFZp686N0199    DKFZp686O1631    HZF16    ZNF
    ZFS-5    ZNF78L1    ZSCAN21    GLIS3    ZNF808    kr-znf3
    DKFZp434J0650    HZF40    ZFS-2    ZNF72    ZFS-6    ZNF702P

    Find genes that share paralogs with GLI3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GLI3 (see all 5746)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs626223731,2,,4
    C,FGreig cephalo-poly-syndactyly syndrome (GCPS)4 --42047054(+) TTTCCT/CATGAG 2 /I /M mis11Minor allele frequency- C:0.00NA 4552
    rs1219177101,2,,4
    C,FPolydactyly, postaxial B (PAPB)4 pathogenic142047299(-) ACAGTG/AGGCTC 2 /R /G mis12Minor allele frequency- A:0.01NA EU 5875
    VAR_0355604
    A colorectal cancer sample4--see VAR_0355602 P L mis40--------
    VAR_0355614
    A colorectal cancer sample4--see VAR_0355612 S P mis40--------
    VAR_0100534
    Greig cephalo-poly-syndactyly syndrome (GCPS)4--see VAR_0100532 C G mis40--------
    VAR_0100544
    Greig cephalo-poly-syndactyly syndrome (GCPS)4--see VAR_0100542 C Y mis40--------
    VAR_0100554
    Greig cephalo-poly-syndactyly syndrome (GCPS)4--see VAR_0100552 P S mis40--------
    VAR_0214814
    Greig cephalo-poly-syndactyly syndrome (GCPS)4--see VAR_0214812 R W mis40--------
    rs1168407701,2
    Cpathogenic142045043(-) CCATTC/TAGTGG 2 Q * stg10--------
    rs1168407691,2
    Cpathogenic142045068(-) CCCGAG/TGGCAG 2 E D mis10--------

    HapMap Linkage Disequilibrium report for GLI3 (42000547 - 42250547 bp, first 250kb of GLI3)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for GLI3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658044CNV Deletion23128226
    nsv5717CNV Insertion18451855
    esv272514CNV Insertion20981092
    nsv887990CNV Loss21882294
    nsv464440CNV Loss19166990
    esv275491CNV Loss21479260
    dgv7256n71CNV Gain21882294
    nsv830976CNV Gain17160897

    Human Gene Mutation Database (HGMD): GLI3
    Site Specific Mutation Identification with PCR Assays
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    (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: 165240   
    OMIM disorders: 175700  146510  174700  174200  241800  
    UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071
  • Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]: Autosomal dominant disorder affecting limb
    and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and
    toes, macrocephaly and hypertelorism. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Pallister-Hall syndrome (PHS) [MIM:146510]: An autosomal dominant disorder characterized by a wide range
    of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or
    postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula,
    congenital heart malformations, pulmonary or renal dysplasia. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Polydactyly, postaxial A1 (PAPA1) [MIM:174200]: A condition characterized by the occurrence of
    supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is
    well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Polydactyly, postaxial B (PAPB) [MIM:174200]: A condition characterized by an extra digit in the
    occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type B the
    extra digit is not well formed and is frequently in the form of a skin. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Polydactyly preaxial 4 (POP4) [MIM:174700]: Preaxial polydactyly (i.e., polydactyly on the radial/tibial
    side of the hand/foot) covers a heterogeneous group of entities. In preaxial polydactyly type IV, the thumb shows
    only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for GLI3 (see all 23):    
    About MalaCards
    gli3-related disorders    polydactyly preaxial type 4    hypothalamic hamartomas, somatic    postaxial polydactyly type b, bilateral
    polydactyly, postaxial, types a1 and b    postaxial polydactyly type a    postaxial polydactyly type a, bilateral    polysyndactyly, bilateral
    postaxial polydactyly type b, unilateral    pallister-hall syndrome    hypothalamic hamartomas    polysyndactyly, unilateral
    postaxial polydactyly type a, unilateral    polydactyly    greig cephalopolysyndactyly syndrome    synovial chondromatosis
    acrocallosal syndrome    axonal neuropathy    tracheoesophageal fistula    mckusick-kaufman syndrome

    7 diseases from the University of Copenhagen DISEASES database for GLI3:
    Pallister-Hall syndrome     Polydactyly     Synostosis     Acrocallosal syndrome
    Imperforate anus     Clubfoot     Holoprosencephaly

    Find genes that share disorders with GLI3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GLI3 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    greig cephalopolysyndactyly syndrome 98.4 17 10770668 (1), 7814032 (1), 12794692 (1), 17588959 (1) (see all 17)
    pallister-hall syndrome 97.4 18 9192261 (2), 9054938 (2), 18252217 (1), 17588959 (1) (see all 15)
    postaxial polydactyly, type a 93.7 5 12734547 (1), 9354785 (1), 10077605 (1), 15390181 (1)
    acrocallosal syndrome 88.5 4 17937435 (1), 18154020 (1), 12414818 (1)
    polydactyly 87.9 8 10441570 (2), 16865294 (1), 18272352 (1), 9302279 (1) (see all 7)
    polydactyly, postaxial 86.4 4 9042919 (1), 10441570 (1), 15778992 (1), 11973619 (1)
    syndactyly 74.9 6 15811011 (2), 9302279 (1), 15390181 (1)
    hamartoma 67.6 5 19449422 (2), 18252217 (1), 18057317 (1), 18478223 (1)
    anomaly congenital multiple 67.1 2 18241058 (1), 17098889 (1)
    developmental delay 58.8 1 15390181 (1)

    GeneTests: GLI3
    GeneReviews: GLI3
    Genetic Association Database (GAD): GLI3
    Human Genome Epidemiology (HuGE) Navigator: GLI3 (8 documents)

    Export disorders for GLI3 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 GLI3 gene, integrated from 10 sources (see all 199):
    (articles sorted by number of sources associating them with GLI3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. (PubMed id 2118997)1, 2, 3, 9 Ruppert J.M.... Kinzler K.W. (Mol. Cell. Biol. 1990)
    2. Point mutations in human GLI3 cause Greig syndrome. (PubMed id 9302279)1, 2, 9 Wild A....Grzeschik K.-H. (Hum. Mol. Genet. 1997)
    3. Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP. (PubMed id 16705181)1, 2, 9 Tempe D.... Concordet J.P. (Mol. Cell. Biol. 2006)
    4. Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. (PubMed id 18252217)1, 4, 9 Craig D.W....Kerrigan J.F. (Am. J. Hum. Genet. 2008)
    5. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. (PubMed id 12414818)1, 2, 9 Elson E.... Black G.C.M. (J. Med. Genet. 2002)
    6. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome. (PubMed id 10441342)1, 2, 9 Kalff-Suske M.... Grzeschik K.-H. (Hum. Mol. Genet. 1999)
    7. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type- A/B; no phenotype prediction from the position of GLI3 mutations. (PubMed id 10441570)1, 2, 9 Radhakrishna U.... Antonarakis S.E. (Am. J. Hum. Genet. 1999)
    8. Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3. (PubMed id 19389374)1, 2, 9 Wuelling M.... Vortkamp A. (Dev. Biol. 2009)
    9. Characterization of the interactions of human ZIC3 mutants with GLI3. (PubMed id 17764085)1, 2, 9 Zhu L.... Belmont J.W. (Hum. Mutat. 2008)
    10. [Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus]. (PubMed id 17029207)1, 4, 9 Zhang X....Sun K.L. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006)

    (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: 2737 HGNC: 4319 AceView: GLI3 Ensembl:ENSG00000106571 euGenes: HUgn2737
    ECgene: GLI3 Kegg: 2737 H-InvDB: GLI3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GLI3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GLI3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GLI3[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 GLI3 gene:
    Search GeneIP for patents involving GLI3

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



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