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

GLI3 Gene

protein-coding   GIFtS: 65
GCID: GC07M041970

GLI family zinc finger 3

(Previous names: Greig cephalopolysyndactyly syndrome, GLI-Kruppel family...)
(Previous symbols: GCPS, PHS)
 Explore 51 diseases affiliated with
GLI3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GLI3    

Aliases
for GLI3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
GLI Family Zinc Finger 31 2     Glioma-Associated Oncogene Family Zinc Finger 31 2
ACLS1 2 5     GLI3-1902 3
PAPA1 2 5     GLI3FL2 3
PAPB1 2 5     Greig Cephalopolysyndactyly Syndrome1
GCPS1 2     Oncogene GLI32
PAP-A1 2     Transcriptional Activator GLI32
PAPA11 2     Zinc Finger Protein GLI32
PHS1 2     GLI3 Form Of 190 KDa3
PPDIV1 2     GLI3 Full Length Protein3
GLI-Kruppel Family Member GLI31 2     

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


Summaries
for GLI3 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 GLI3:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GLI3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC07M041970:  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     

Proteins
for GLI3 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: 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
Subcellular location: 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
Sequence caution: Sequence=AAA52564.1; Type=Frameshift; Positions=1549;
Secondary accessions: A4D1W1 O75219 Q17RW4 Q75MT0 Q75MU9 Q9UDT5 Q9UJ39

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P10071

    • GLI3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn Proteins for GLI3

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA11238441
    GO:0005829cytosol IDA18559511
    GO:0005929cilium IDA16254602


    GLI3 for ontologies           About GeneDecksing



    GLI3 Antibody Products: 
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    ThermoFisher Antibodies for GLI3

    Assay Products for GLI3: 
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    Uscn ELISAs and CLIAs for GLI3

    Protein Domains /
    Families
    for GLI3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GLI3 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 P10071

    ProtoNet protein and cluster: P10071

    1 Blocks protein family: 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


    Function
    for GLI3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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'

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GLI3
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    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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GLI3 (see all 4)
    OriGene shRNA RFP: GLI3
    OriGene siRNA: GLI3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GLI3

    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for GLI3

    In Situ Assay
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA17764085
    GO:0005515protein binding IPI11238441
    GO:0008013beta-catenin binding IPI17331723
    GO:0008270zinc ion binding IEA--


    GLI3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for GLI3:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-outs for GLI3: Gli3tm1.1Alj Gli3tm1Blnw
         15/21 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  hearing/vestibular/ear  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  pigmentation 

    GLI3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GLI3 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 - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Hedgehog Signaling Pathway
    		Hedgehog Signaling Pathway1.00
    		Hedgehog Pathway0.32
    2Basal cell carcinoma
    		Basal cell carcinoma1.00
    		Hedgehog signaling pathway0.41
    3TGF-beta Signaling Pathways
    		TGF-beta Signaling Pathways1.00
    4Hedgehog signaling events mediated by Gli proteins
    		Hedgehog signaling events mediated by Gli proteins1.00
    5Pathways in cancer
    		Pathways in cancer1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    1 Downloadable PowerPoint Slide of QIAGEN 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


    GLI3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GLI3

    5/18 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): 5/87 biological process terms (GO ID links to tree view) (see all 87):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA19084012
    GO:0001656metanephros development IEA--
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001822kidney development ----


    GLI3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GLI3 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

    GLI3 for compounds           About GeneDecksing

    EMD Millipore small molecules for GLI3:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about GLI3 

    Transcripts
    for GLI3 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, 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 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

    miRNA
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    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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    Primer
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    Additional cDNA sequence: 

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

    8 DOTS entries:

    DT.412849  DT.95140913  DT.70100752  DT.309655  DT.91721200  DT.91746160  DT.92421910  DT.91991149 

    24/64 AceView cDNA sequences (see all 64):

    BF194991 AI138649 AA649654 AU123517 BM552681 AW953518 BE221252 BG249639 
    BU625637 BQ668725 BM459980 CA406166 BU627224 BV197662 AU127370 AI863961 
    M57609 AU120131 BC032660 BI915087 BX426100 BE644765 BQ181783 BU752984 

    GeneLoc Exon Structure


    Expression
    for GLI3 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

    GLI3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAATACATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GLI3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/67 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 67) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneAutopod PeriosteumImmature Endochondral OsteoblastsBone
    BoneCervical VertebraeImmature Endochondral OsteoblastsBone
    BoneLumbar VertebraeImmature Endochondral OsteoblastsBone
    BoneSacral VertebraeImmature Endochondral OsteoblastsBone
    BoneStylopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneStylopod PeriosteumImmature Endochondral OsteoblastsBone
    BoneThoracic RibImmature Endochondral OsteoblastsBone
    BoneThoracic VertebraeImmature Endochondral OsteoblastsBone
    BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    N2/LSB induced-cells (Generation of midbra...)

    See GLI3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GLI3

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including GLI3: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat
              Stem Cell Signaling in human mouse rat

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    Orthologs
    for GLI3 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 GLI3 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves GLI31 GLI family zinc finger 3 76.51(n)
    79.56(a)    		   420769  XM_418866.3  XP_418866.2 
    lizard
    (Anolis carolinensis)    		 Reptilia GLI36
    		 --
    		 75(a)
    		 1 ↔ 1
    		 6(49909134-50092102)
    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)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G066346
    		 uncharacterized zinc finger protein
    		 14(a)
    		 1 → many
    		 4(3764289-3766578)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 ZOS5-01 - C2H2 zinc finger protein, expressed
    		 17(a)
    16(a)
    		 many ↔ many
    many ↔ many
    		 2(20795085-20798606)
    5(321102-324421)


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

    Paralogs
    for GLI3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GLI3 gene
    ZNF762  GLI12  ZIC22  YY12  ZIC12  GLIS22  GLI22  ZNF1432  
    YY22  MTF12  ZIC32  ZNF4102  ZFP422  GLIS12  ZIC42  GLIS32  
    ZIC52  
    18/28 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    ZNF663    ZSCAN21    GLIS3    ZNF808
    kr-znf3    DKFZp434J0650    HZF40    ZFS-2    ZNF72    ZFS-6

    GLI3 for paralogs           About GeneDecksing



    Genomic Variants
    for GLI3 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

    10/4779 NCBI SNPs in GLI3 are shown (see all 4779)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs787947121,2
    		C,F,non-pathogenic42043645(-) TTCAAT/ATATAT 1 -- ut311Minor allele frequency- A:0.07NA 120
    rs778865531,2
    		C,F,non-pathogenic42043751(+) GATTTC/ACGTTG 1 -- ut312Minor allele frequency- A:0.05NA EU 1324
    rs357651301,2
    		Cnon-pathogenic42043819(+) CGCTA-/GGGAGG 2 * L fra10--------
    rs353644141,2
    		C,F,non-pathogenic42043915(+) GAGGCG/AGGAGG 2 /R /C mis16Minor allele frequency- A:0.04NA EU 6061
    rs20794511,2
    		Cnon-pathogenic42043929(-) CCTTTC/GCCATA 2 S C mis10--------
    rs283966891,2
    		Cnon-pathogenic42044231(+) CACAGC/GGGATG 2 P syn1 ese30--------
    rs340894041,2
    		C,F,non-pathogenic42044453(+) CCTTGG/ATAGAT 2 /Y syn15Minor allele frequency- A:0.08NA WA EU 5931
    rs351393581,2
    		C,F,non-pathogenic42044504(+) TGACCG/AGGGCG 2 /P syn14Minor allele frequency- A:0.04NA EU 5593
    rs354481191,2
    		C,F,non-pathogenic42044750(+) CTGTTG/CAGACA 2 /L syn12Minor allele frequency- C:0.02NA 4620
    rs9293871,2
    		C,F,A,H,non-pathogenic42045531(-) TGCGCC/TGGGCC 2 P L mis1 ese322Minor allele frequency- T:0.45NA NS EA CSA WA 2479

    HapMap Linkage Disequilibrium report for GLI3 (42000547 - 42250547 bp, first 250kb of GLI3)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GLI3: --
    Human Gene Mutation Database (HGMD): GLI3

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    Disorders / Diseases
    for GLI3 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
    GLI3 for disorders           About GeneDecksing

    OMIM gene information: 165240   
    OMIM disorders: 175700  146510  174700  174200  200990  241800  
    UniProtKB/Swiss-Prot: GLI3_HUMAN, P10071
  • Defects in GLI3 are the cause of Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]. GCPS is an
    • autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial
    polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism
  • Defects in GLI3 are a cause of Pallister-Hall syndrome (PHS) [MIM:146510]. PHS is characterized by a wide
    • range of clinical manifestations. It mainly associates central or postaxial polydactyly, syndactyly, and hypothalamic
    hamartoma. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations,
    pulmonary or renal dysplasia. It is an autosomal dominant disorder
  • Defects in GLI3 are a cause of polydactyly postaxial type A1 (PAPA1) [MIM:174200]. A trait characterized by an
    • extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is well formed and
    articulates with the fifth, or extra, metacarpal/metatarsal, and thus it is usually functional
  • Defects in GLI3 are a cause of polydactyly postaxial type B polydactyly (PAPB) [MIM:174200]. A trait
    • characterized by an extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra
    digit is not well formed and is frequently in the form of a skin
  • Defects in GLI3 are a cause of polydactyly preaxial type 4 (POP4) [MIM:174700]. Polydactyly preaxial type 4
    • (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

    20/51 diseases for GLI3 (see all 51):    About MalaCards
    greig cephalopolysyndactyly syndrome    pallister-hall syndrome    postaxial polydactyly type a    polydactyly
    esophageal atresia/tracheoesophageal fistula    hypothalamic hamartomas, somatic    mckusick-kaufman syndrome    tracheoesophageal fistula
    hypothalamic hamartomas    polydactyly preaxial type 4    diffuse large b-cell lymphoma    synovial chondromatosis
    talipes equinovarus    imperforate anus    cavernous malformation    b-cell lymphomas
    developmental disabilities    acrocallosal syndrome    cerebral cavernous malformations    vacterl association

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

    10/16 Novoseek 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
    Pallister-Hall Syndrome
    Greig Cephalopolysyndactyly Syndrome

    Human Genome Epidemiology (HuGE) Navigator: GLI3 (8 documents)

    Export disorders for GLI3 gene to outside databases

    Publications
    for GLI3 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 GLI3 gene, integrated from 9 sources (see all 183):
    (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. (1990)
    2. Point mutations in human GLI3 cause Greig syndrome. (PubMed id 9302279)1, 2, 9 Wild A....Grzeschik K.-H. (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. (2006)
    4. 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. (2002)
    5. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome. (PubMed id 10441342)1, 2, 9 Kalff-Suske M.... Grzeschik K.-H. (1999)
    6. 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. (1999)
    7. 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. (2009)
    8. Characterization of the interactions of human ZIC3 mutants with GLI3. (PubMed id 17764085)1, 2, 9 Zhu L....Belmont J.W. (2008)
    9. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. (PubMed id 12794692)1, 2, 9 Debeer P....Kalff-Suske M. (2003)
    10. Evidence for the direct involvement of {beta}TrCP in Gli3 protein processing. (PubMed id 16371461)1, 2 Wang B. and Li Y. (2006)

    External Searches for GLI3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    Genome Databases showing GLI3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2737 HGNC: 4319 AceView: GLI3 Ensembl:ENSG00000106571 euGenes: HUgn2737
    ECgene: GLI3 Kegg: 2737 H-InvDB: GLI3

    Other Databases showing GLI3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GLI3 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 GLI3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GLI3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLI3

    Intellectual Property
    for GLI3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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