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

GLI2 Gene

protein-coding   GIFtS: 68
GCID: GC02P121495

GLI Family Zinc Finger 2

(Previous names: GLI-Kruppel family member GLI2, glioma-associated oncogene...)
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 21 2     THP12
GLI-Kruppel Family Member GLI21 2     THP22
Glioma-Associated Oncogene Family Zinc Finger 21 2     Oncogene GLI22
Tax Helper Protein 11 2     Tax-Responsive Element-25-Bp Sequence Binding Protein2
Tax Helper Protein 21 2     Zinc Finger Protein GLI22
Tax-Responsive Element-2 Holding Protein1 2     THP3
HPE92 5     Tax Helper Protein3

External Ids:    HGNC: 43181   Entrez Gene: 27362   Ensembl: ENSG000000740477   OMIM: 1652305   UniProtKB: P100703   

Export aliases for GLI2 gene to outside databases

Previous GC identifers: GC02P118754 GC02P119470 GC02P121456 GC02P121645 GC02P121266 GC02P113876


(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 GLI2 Gene:
This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members
of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These
motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh)
signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by
this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also
thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig
cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly
types A1 and B. (provided by RefSeq, Jul 2008)

GeneCards Summary for GLI2 Gene: 
GLI2 (GLI family zinc finger 2) is a protein-coding gene. Diseases associated with GLI2 include gli2-related holoprosencephaly, and holoprosencephaly, recurrent infections, and monocytosis, 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: GLI2_HUMAN, P10070
Function: Acts as a transcriptional activator. May play a role during embryogenesis. Binds to the DNA sequence
5'-GAACCACCCA-3' which is part of the TRE-2S regulatory element that augments the Tax-dependent enhancer of human
T-cell leukemia virus type 1. Is involved in the smoothened (SHH) signaling pathway

Gene Wiki entry for GLI2 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_000002.11  NT_022135.16  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GLI2 gene promoter:
         USF1   FOXF2   AP-1   USF-1   MyoD   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GLI2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GLI2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLI2


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

Entrez Gene cytogenetic band: 2q14   Ensembl cytogenetic band:  2q14.2   HGNC cytogenetic band: 2q14

GLI2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLI2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P121495:  view genomic region     (about GC identifiers)

Start:
121,493,199 bp from pter      End:
121,750,229 bp from pter
Size:
257,031 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GLI2_HUMAN, P10070 (See protein sequence)
Recommended Name: Zinc finger protein GLI2  
Size: 1586 amino acids; 167783 Da
Subunit: Interaction with ZIC (By similarity)
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=BAA03568.1; Type=Frameshift; Positions=754, 760; Sequence=BAA03569.1; Type=Frameshift;
Positions=398, 410, 754, 760; Sequence=BAA25665.1; Type=Frameshift; Positions=398, 410; Sequence=BAA25667.1;
Type=Frameshift; Positions=398, 410;
Secondary accessions: O60252 O60253 O60254 O60255 Q15590 Q15591 Q4JHT4
Alternative splicing: 5 isoforms:  P10070-5   P10070-1   P10070-2   P10070-3   P10070-4   

Explore the universe of human proteins at neXtProt for GLI2: NX_P10070

Explore proteomics data for GLI2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated in vitro by ULK3. Phosphorylated by DYRK2; this inhibits GLI2 transcription factor activity and
    promotes proteasomal degradation of GLI2
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10070

  • GLI2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GLI2 Protein Expression
    REFSEQ proteins: NP_005261.2  
    ENSEMBL proteins: 
     ENSP00000398992   ENSP00000400593   ENSP00000403715   ENSP00000397488   ENSP00000344473  
     ENSP00000390436   ENSP00000415773   ENSP00000441454   ENSP00000402383   ENSP00000354586  
     ENSP00000312694  

    Human Recombinant Protein Products for GLI2: 
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    OriGene Protein Over-expression Lysate for GLI2
    OriGene Custom MassSpec 
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    Novus Biologicals GLI2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GLI2 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA9557682
    GO:0005737cytoplasm IEA--
    GO:0005929cilium ----
    GO:0016020membrane IEA--
    GO:0016607nuclear speck IEA--

    GLI2 for ontologies           About GeneDecksing



    GLI2 Antibody Products: 
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    GenScript Custom Superior Antibodies Services for GLI2
    Novus Biologicals GLI2 Antibodies
    Abcam antibodies for GLI2
    Cloud-Clone Corp. Antibodies for GLI2 
    ThermoFisher Antibodies for GLI2
    LSBio Antibodies in human, mouse, rat for GLI2 

    Assay Products for GLI2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GLI2
    R&D Systems Transcription Factor Binding & Immunoprecipitation Assays for GLI2 (GLI-2)
    GenScript Custom Assay Services for GLI2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GLI2 
    Cloud-Clone Corp. CLIAs for GLI2


    (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 P10070

    ProtoNet protein and cluster: P10070

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

    UniProtKB/Swiss-Prot: GLI2_HUMAN, P10070
    Similarity: Belongs to the GLI C2H2-type zinc-finger protein family
    Similarity: Contains 5 C2H2-type zinc fingers


    GLI2 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: GLI2_HUMAN, P10070
    Function: Acts as a transcriptional activator. May play a role during embryogenesis. Binds to the DNA sequence
    5'-GAACCACCCA-3' which is part of the TRE-2S regulatory element that augments the Tax-dependent enhancer of human
    T-cell leukemia virus type 1. Is involved in the smoothened (SHH) signaling pathway

         Genatlas biochemistry entry for GLI2:
    GLI-Kruppel family member GLI2,with homology to Drosophila segment polarity gene Cubitus interruptus,involved in
    the formation of lung,trachea and oesophagus

         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:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA15994174
    GO:0005515protein binding IPI12435627
    GO:0008270zinc ion binding IDA8378770
         
    GLI2 for ontologies           About GeneDecksing


    Phenotypes:
         15/20 MGI mutant phenotypes (inferred from 15 alleles(MGI details for Gli2) (see all 20):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  no phenotypic analysis 

    GLI2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GLI2: Gli2tm6.1Alj Gli2tm1Alj

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GLI2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GLI2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GLI2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GLI2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GLI2
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate GLI2 (see all 34):
    hsa-miR-3607-3p hsa-miR-139-5p hsa-miR-200a hsa-miR-30d hsa-miR-502-3p hsa-miR-10b* hsa-miR-877* hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidGLI2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GLI2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GLI2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GLI2
    Sirion Biotech Customized adenovirus for overexpression of GLI2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for GLI2 (see all 8)
    OriGene ORF clones in mouse, rat for GLI2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GLI2 (NM_005270)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLI2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GLI2
    Search LifeMap BioReagents cell lines for GLI2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLI2


    (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 GLI2 About   (see all 9)                                                                                              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
    3Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    4G-Beta Gamma Signaling
    CRHR Pathway0.44
    5Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GLI2
        Development Hedgehog and PTH signaling pathways in bone and cartilage development

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GLI2
        CRHR Pathway

    1 Cell Signaling Technology (CST) Pathway for GLI2
        Wnt / Hedgehog / Notch

    1 Tocris Bioscience Pathway for GLI2
        Hedgehog Pathway

    1 GeneGo (Thomson Reuters) Pathway for GLI2
        Development Hedgehog and PTH signaling pathways in bone and cartilage development

    3 BioSystems Pathways for GLI2
        Hedgehog Signaling Pathway
    Hedgehog signaling events mediated by Gli proteins
    Signaling events mediated by the Hedgehog family


    4         Kegg Pathways  (Kegg details for GLI2):
        Hedgehog signaling pathway
    Hippo signaling pathway
    Pathways in cancer
    Basal cell carcinoma


    GLI2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GLI2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/95 Interacting proteins for GLI2 (P100703 ENSP000003545864) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK1EP496743, ENSP000003529294I2D: score=4 STRING: ENSP00000352929
    PRKACAP176123, ENSP000003095914I2D: score=3 STRING: ENSP00000309591
    SKIP127553, ENSP000003677974I2D: score=2 STRING: ENSP00000367797
    STK36Q9NRP73, ENSP000002957094I2D: score=2 STRING: ENSP00000295709
    BTRCQ9Y2973, ENSP000003592064I2D: score=1 STRING: ENSP00000359206
    About this table

    Gene Ontology (GO): 5/61 biological process terms (GO ID links to tree view) (see all 61):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP15994174
    GO:0001501skeletal system development ISS--
    GO:0001649osteoblast differentiation IDA12165851
    GO:0001701in utero embryonic development IEA--
    GO:0001822kidney development ISS--

    GLI2 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

    GLI2 for compounds           About GeneDecksing

    EMD Millipore small molecules for GLI2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GLI2

    1 Novoseek inferred chemical compound relationship for GLI2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 46.7 8 15520176 (2), 10769232 (1), 19797115 (1), 11783999 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about GLI2

    (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 GLI2 gene (4 alternative transcripts): 
    NM_005270.4  NM_030379.1  NM_030380.1  NM_030381.1  

    Unigene Cluster for GLI2:

    GLI family zinc finger 2
    Hs.111867  [show with all ESTs]
    Unigene Representative Sequence: NM_005270
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000482119 ENST00000472722(uc010yyu.1) ENST00000418323(uc002tmp.1)
    ENST00000438299(uc002tmq.1) ENST00000452692(uc010fln.1 uc002tmr.1)
    ENST00000445186 ENST00000341310 ENST00000452319(uc002tmt.4 uc002tmu.4 uc010flp.3)
    ENST00000437950 ENST00000435313 ENST00000360874 ENST00000433812 ENST00000361492
    ENST00000314490(uc002tmv.1 uc010flo.1 uc002tmw.1)
    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 GLI2
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate GLI2 (see all 34):
    hsa-miR-3607-3p hsa-miR-139-5p hsa-miR-200a hsa-miR-30d hsa-miR-502-3p hsa-miR-10b* hsa-miR-877* hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidGLI2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GLI2

    Additional mRNA sequence: 

    AB007295.1 AB007297.1 AB209354.1 AK300071.1 AY493737.1 AY493738.1 AY493739.1 BC111410.1 
    DQ004396.1 DQ004397.1 DQ004398.1 DQ086814.1 

    5 DOTS entries:

    DT.92418615  DT.102829768  DT.40113400  DT.441245  DT.95266956 

    24/42 AceView cDNA sequences (see all 42):

    AW089214 W01898 W79695 AA620825 N75386 AI089685 AI204540 AI822132 
    CA430900 AW964168 AY493739 AI379285 D14828 AA378649 NM_030379 AI797248 
    AU130955 AA375858 AY493738 NM_030381 AB007298 BX103004 AY493737 AU152811 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for GLI2 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                                                                                                  
    SP2:                    -     -     -     -                                                                           
    SP3:                    -     -     -     -                       -                                                   
    SP4:                    -     -     -     -                                                                           
    SP5:                    -     -     -     -                       -                                                   


    ECgene alternative splicing isoforms for GLI2

    (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

    GLI2 expression in normal human tissues (normalized intensities)      GLI2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCAACTTGT
    GLI2 Expression
    About this image


    GLI2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/43 selected tissues (see all 43) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 17 entries
             Myoblasts Lumbar Primary Epaxial Myotome
             skeletal muscle ; myocytes   
     
     Somite (Muscoskeletal System)    fully expand to see all 17 entries
             Myoblasts Cervical Epaxial Myotome
     
     Bone (Muscoskeletal System)    fully expand to see all 11 entries
             Immature Endochondral Osteoblasts Stylopod Periosteum
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Floor Plate Cells Spinal Floor Plate
             Spinal Floor Plate
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Late MN Progenitor Cells Motor Neural Progenitor Domain
             Lateral Ventricle

    See GLI2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GLI2

    SOURCE GeneReport for Unigene cluster: Hs.111867
        SABiosciences Expression via Pathway-Focused PCR Arrays including GLI2 (see all 6): 
              Stem Cell Transcription Factors in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat
              TGFB Signaling Targets 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 GLI2 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gli21 , 5 GLI-Kruppel family member GLI21, 5 82.67(n)1
    85.15(a)1
      1 (52.17 cM)5
    146331  NM_001081125.11  NP_001074594.11 
     1188341325 
    chicken
    (Gallus gallus)
    Aves GLI21 GLI family zinc finger 2 70.63(n)
    69.87(a)
      395956  XM_003641584.1  XP_003641632.1 
    lizard
    (Anolis carolinensis)
    Reptilia GLI26
    Uncharacterized protein
    63(a)
    1 ↔ 1
    1(84445433-84706446)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xgli42 neural specific DNA binding protein 77.05(n)    U42462.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gli22 GLI-Kruppel family member GLI2 77.93(n)   30154  AF085746.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta ci3 regulation of mitotic cell cycle
    specific RNA more
    74(a)
    (best of 3)
        --


    ENSEMBL Gene Tree for GLI2 (if available)
    TreeFam Gene Tree for GLI2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GLI2 gene
    MTF12  ZIC32  ZNF4102  ZNF762  GLI12  ZIC22  ZIC12  GLIS22  
    ZIC42  GLIS12  ZNF1432  GLIS32  ZIC52  GLI32  
    18/32 SIMAP similar genes for GLI2 using alignment to 9 protein entries:     GLI2_HUMAN (see all proteins) (see all similar genes):
    Gli2    GLI3    DKFZp686O1631    GLIS3    ZNF    DKFZp686N0199
    HZF16    ZFS-5    ZNF78L1    ZIC4    smap-7    ZNF663
    ZNF808    ZFS-2    kr-znf3    DKFZp434J0650    ZNF72    GLI1

    GLI2 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

    10/4466 SNPs in GLI2 are shown (see all 4466)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0329784
    Holoprosencephaly 9 (HPE9)4--see VAR_0329782 P L mis40--------
    VAR_0329754
    Holoprosencephaly 9 (HPE9)4--see VAR_0329752 R G mis40--------
    VAR_0329764
    Holoprosencephaly 9 (HPE9)4--see VAR_0329762 P S mis40--------
    rs1464677861,2,4
    C,FHoloprosencephaly 9 (HPE9)4 --121259578(+) AGCATG/ACTCTA 2 /I /M mis12Minor allele frequency- A:0.00NA EU 5651
    rs343181441,2
    C--113908790(+) CCTGC-/CACC  
            
    ACCCA
    1 -- int10--------
    rs725337771,2
    C--113950943(+) CACAC-/TGCAGCT 1 -- int10--------
    rs1915368431,2
    --113961297(+) CAGTGG/TGGGGA 1 -- int10--------
    rs1837432911,2
    --113961303(+) GGGGAA/CGGCAG 1 -- int10--------
    rs1893630951,2
    --113961306(+) GACGGC/TAGGTG 1 -- int10--------
    rs1931480201,2
    --113961321(+) GAGGAC/TAGTCG 1 -- int10--------

    HapMap Linkage Disequilibrium report for GLI2 (121493199 - 121743199 bp, first 250kb of GLI2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for GLI2 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740761CNV Deletion23290073
    esv2720648CNV Deletion23290073
    esv2720645CNV Deletion23290073
    esv2720646CNV Deletion23290073
    esv2067397CNV Deletion18987734
    esv2668284CNV Deletion23128226
    esv2720647CNV Deletion23290073
    dgv727e199CNV Deletion23128226
    nsv2897CNV Insertion18451855
    nsv834350CNV Loss17160897


    Human Gene Mutation Database (HGMD): GLI2
    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: 165230   
    OMIM disorders: 610829  
    UniProtKB/Swiss-Prot: GLI2_HUMAN, P10070
  • Holoprosencephaly 9 (HPE9) [MIM:610829]: A structural anomaly of the brain, in which the developing
    forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically
    heterogeneous and associated with several distinct facies and phenotypic variability. Holoprosencephaly type 9 is
    characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain
    cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/37 diseases for GLI2 (see all 37):    About MalaCards
    gli2-related holoprosencephaly    holoprosencephaly, recurrent infections, and monocytosis    greig cephalopolysyndactyly syndrome    polydactyly
    postaxial polydactyly type a    pallister-hall syndrome    bamforth-lazarus syndrome    holoprosencephaly
    htlv-1 associated myelopathy    vacterl association    human t-cell leukemia virus type 1    hypopituitarism
    tropical spastic paraparesis    spastic paraparesis    basal cell carcinoma    spasticity
    cleft lip    microphthalmia    mantle cell lymphoma    neuroendocrine tumor

    6 diseases from the University of Copenhagen DISEASES database for GLI2:
    Holoprosencephaly     Basal cell carcinoma     Polydactyly     Medulloblastoma
    Cleft lip     VACTERL association

    GLI2 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for GLI2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia t-cell 78.5 15 8617746 (1), 9847380 (1), 19129196 (1), 7745688 (1) (see all 11)
    holoprosencephaly 73.3 1 17103456 (1)
    carcinoma basal cell 67.7 5 15175043 (1), 19797115 (1), 15140221 (1), 18264131 (1) (see all 5)
    skin tumor 27.5 2 12235001 (2)
    hypoplasia 25.6 1 9731531 (1)
    glioblastoma 24.3 1 12241103 (1)
    cancer 16.2 3 17638910 (1), 19158486 (1), 15520176 (1)
    tumors 15.8 18 18264131 (3), 15520176 (3), 19647223 (2), 12235001 (1) (see all 9)

    GeneTests: GLI2
    GeneReviews: GLI2
    Genetic Association Database (GAD): GLI2
    Human Genome Epidemiology (HuGE) Navigator: GLI2 (12 documents)

    Export disorders for GLI2 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 GLI2 gene, integrated from 9 sources (see all 156):
    (articles sorted by number of sources associating them with GLI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of novel isoforms of the human Gli2 oncogene and their activities to enhance tax-dependent transcription of the human T-cell leukemia virus type 1 genome. (PubMed id 9557682)1, 2, 3, 9 Tanimura A.... Yoshida M. (1998)
    2. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. (PubMed id 14581620)1, 2, 4 Roessler E....Muenke M. (2003)
    3. The GLI-Kruppel family of human genes. (PubMed id 2850480)1, 2, 3 Ruppert J.M.... Vogelstein B. (1988)
    4. A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. (PubMed id 15994174)1, 2, 9 Roessler E.... Muenke M. (2005)
    5. A new regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1 and cloning of cDNAs encoding its binding proteins. (PubMed id 8350401)1, 2, 9 Tanimura A.... Yoshida M. (1993)
    6. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    7. Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. (PubMed id 19937600)1, 4 Carter T.C....Mills J.L. (2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    10. Genome-wide association study to identify single nucl eotide polymorphisms (SNPs) associated with the development of erectile dysfunc tion in African-American men after radiotherapy for prostate cancer. (PubMed id 20932654)1, 4 Kerns S.L....Rosenstein B.S. (2010)

    (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: 2736 HGNC: 4318 AceView: GLI2 Ensembl:ENSG00000074047 euGenes: HUgn2736
    ECgene: GLI2 Kegg: 2736 H-InvDB: GLI2

    (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 GLI2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GLI2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GLI2 gene:
    Search GeneIP for patents involving GLI2

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



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