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

GLI3 Gene

protein-coding   GIFtS: 68
GCID: GC07M041970

GLI Family Zinc Finger 3

(Previous names: Greig cephalopolysyndactyly syndrome, GLI-Kruppel family...)
(Previous symbols: GCPS, PHS)
Microbiology & Infectious Diseases Congress
  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
GLI Family Zinc Finger 31 2     PAPA2 5
GCPS1 2     PAPB2 5
PHS1 2     DNA-Binding Protein1
GLI-Kruppel Family Member GLI31 2     Greig Cephalopolysyndactyly Syndrome1
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
ACLS2 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


(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 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 pallister-hall syndrome, and greig cephalopolysyndactyly syndrome, and among its related super-pathways are Hedgehog Pathway and Hedgehog signaling pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  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     

(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: 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

Explore proteomics data for GLI3 at MOPED 

Post-translational modifications:

  • UniProtKB: 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 processing
  • UniProtKB: 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 ULK3
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10071

  • GLI3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GLI3 Protein Expression
    REFSEQ proteins: NP_000159.3  
    ENSEMBL proteins: 
     ENSP00000379258   ENSP00000406135   ENSP00000407963  

    Human Recombinant Protein Products for GLI3: 
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for GLI3
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    Novus Biologicals GLI3 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GLI3 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA10077605
    GO:0005829cytosol IDA18559511
    GO:0005929cilium IDA16254602

    GLI3 for ontologies           About GeneDecksing



    GLI3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of GLI3
    R&D Systems Antibodies for GLI3 (GLI-3)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for GLI3
    GenScript Custom Superior Antibodies Services for GLI3
    Novus Biologicals GLI3 Antibodies
    Abcam antibodies for GLI3
    Cloud-Clone Corp. Antibodies for GLI3 
    ThermoFisher Antibody for GLI3
    LSBio Antibodies in human, mouse, rat for GLI3 

    Assay Products for GLI3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GLI3
    R&D Systems Transcription Factor Binding & Immunoprecipitation Assays for GLI3 (GLI-3)
    GenScript Custom Assay Services for GLI3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GLI3 
    Cloud-Clone Corp. CLIAs for GLI3


    (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 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


    GLI3 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: 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): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA10077605
    GO:0005515protein binding IPI11238441
    GO:0008013beta-catenin binding IPI17331723
    GO:0008270zinc ion binding ----
         
    GLI3 for ontologies           About GeneDecksing


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

         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

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GLI3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GLI3
    8/55 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GLI3

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of GLI3

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for GLI3
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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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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLI3

    Cell Line
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    Search LifeMap BioReagents cell lines for GLI3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLI3


    (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 GLI3 About   (see all 7)                                                                                              See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/88 biological process terms (GO ID links to tree view) (see all 88):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA12435627
    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



    (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

    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 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)

    Search CenterWatch for drugs/clinical trials and news about GLI3

    (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 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GLI3
    8/55 QIAGEN miScript miRNA 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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      QIAGEN 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 

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

    AU123517 BM552681 BG249639 AA649654 BQ668725 BU627224 CA406166 AI138649 
    BU625637 AW953518 BF194991 BM459980 BE221252 AA330409 BC032660 T29003 
    BX283816 BQ181783 NM_000168 BG153412 BX426100 AI860179 BG742386 AU120131 

    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

    GLI3 expression in normal human tissues (normalized intensities)      GLI3 embryonic expression: see
    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 
     5/16 selected tissues (see all 16) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 32 entries
             Prechondrocytic Mesenchymal Cells Thoracic Intervertebral Disc
     
     Bone (Muscoskeletal System)    fully expand to see all 30 entries
             Chondrocytes Stylopod Epiphyseal End
     
     Somite (Muscoskeletal System)    fully expand to see all 17 entries
             Muscle Progenitor Cells Sacral Dorsomedial Dermomyotome Lip
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 16 entries
             Muscle Progenitor Cells Sacral Dorsomedial Dermomyotome Lip
     
     Limb (Muscoskeletal System)    fully expand to see all 13 entries
             Interzone Cells Autopod Synovial Joint
             Limb Bud
             limb/forelimb   

    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 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 GLI3 gene from 6/17 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 84.7(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)
    79.56(a)
      420769  XM_418866.3  XP_418866.2 
    lizard
    (Anolis carolinensis)
    Reptilia GLI36
    Uncharacterized protein
    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   --


    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)
    About This Section
    Paralogs for GLI3 gene
    MTF12  ZIC32  ZNF4102  ZNF762  GLI12  ZIC22  ZIC12  GLIS22  
    GLI22  ZIC42  GLIS12  ZNF1432  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



    (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

    10/5746 SNPs in GLI3 are shown (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
    ----------
    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--------
    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
    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
    SABiosciences Cancer Mutation PCR Assays
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    (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: 165240   
    OMIM disorders: 175700  146510  174700  174200  200990  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

  • 20/64 diseases for GLI3 (see all 64):    About MalaCards
    pallister-hall syndrome    greig cephalopolysyndactyly syndrome    postaxial polydactyly type a    hypothalamic hamartomas
    hypothalamic hamartomas with gelastic seizures    polydactyly preaxial type 4    hypothalamic hamartomas, somatic    postaxial polydactyly type a, bilateral
    polysyndactyly, unilateral    postaxial polydactyly type a, unilateral    postaxial polydactyly type b, bilateral    polysyndactyly, bilateral
    postaxial polydactyly type b, unilateral    polydactyly    acrocallosal syndrome    synovial chondromatosis
    gli3-related disorders    esophageal atresia/tracheoesophageal fistula    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

    GLI3 for disorders           About GeneDecksing

    10/16 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)
    About This Section

    PubMed articles for GLI3 gene, integrated from 9 sources (see all 196):
    (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. 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. (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. (2002)
    6. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome. (PubMed id 10441342)1, 2, 9 Kalff-Suske M.... Grzeschik K.-H. (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. (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. (2009)
    9. Characterization of the interactions of human ZIC3 mutants with GLI3. (PubMed id 17764085)1, 2, 9 Zhu L....Belmont J.W. (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. (2006)

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

    (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 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

    (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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