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

GLI2 Gene

protein-coding   GIFtS: 67
GCID: GC02P121495

GLI family zinc finger 2

(Previous names: GLI-Kruppel family member GLI2, glioma-associated oncogene...)
 Explore 39 diseases affiliated with
GLI2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GLI2    

Aliases
for GLI2 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 21 2     Tax Helper Protein 12
HPE91 2 5     Tax Helper Protein 22
THP11 2     Tax-Responsive Element-2 Holding Protein2
THP21 2     Tax-Responsive Element-25-Bp Sequence Binding Protein2
GLI-Kruppel Family Member GLI21 2     Zinc Finger Protein GLI22
Glioma-Associated Oncogene Family Zinc Finger 21 2     THP3
Oncogene GLI22     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


Summaries
for GLI2 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 GLI2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022135.16  
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

Proteins
for GLI2 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: 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

Post-translational modifications:

  • Phosphorylated in vitro by ULK3. Phosphorylated by DYRK2; this inhibits GLI2 transcription factor activity and promotes
    • proteasomal degradation of GLI21
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P10070

    • GLI2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    Novus Biologicals GLI2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GLI2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005929cilium ----
    GO:0016020membrane IEA--


    GLI2 for ontologies           About GeneDecksing



    GLI2 Antibody Products: 
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    GenScript Custom Assay Services for GLI2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for GLI2

    Protein Domains /
    Families
    for GLI2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GLI2 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 P10070

    ProtoNet protein and cluster: P10070

    1 Blocks protein family: 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


    Function
    for GLI2 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: 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

    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 plasmid: GLI2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GLI2 (see all 7)
    OriGene shRNA RFP: GLI2
    OriGene siRNA: GLI2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GLI2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GLI2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GLI2 (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLI2 

    Cell Line
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    Search LifeMap BioReagents cell lines for GLI2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLI2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA9557682
    GO:0005515protein binding IPI12435627
    GO:0008270zinc ion binding IDA8378770


    GLI2 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for GLI2 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 - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Hedgehog and PTH signaling pathways in bone and cartilage development
    		Development_Hedgehog and PTH signaling pathways in bone and cartilage development1.00
    		Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    2Hedgehog Signaling Pathway
    		Hedgehog Signaling Pathway1.00
    		Hedgehog Pathway0.32
    3Basal cell carcinoma
    		Basal cell carcinoma1.00
    		Hedgehog signaling pathway0.41
    4Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00
    5Signaling events mediated by the Hedgehog family
    		Signaling events mediated by the Hedgehog family1.00

    Pathway sources
    See GeneCards unified pathways
    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
    Signaling events mediated by the Hedgehog family
    Hedgehog signaling events mediated by Gli proteins


    3         Kegg Pathways  (Kegg details for GLI2):
        Hedgehog 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)

    5/96 Interacting proteins for GLI2 (P100703 ENSP000003545864) via UniProtKB, MINT, STRING, and/or I2D (see all 96)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK1EP496743, ENSP000003529294I2D: score=4 STRING: ENSP00000352929
    EIF3CQ996133I2D: score=3 
    EIF3CLQ996133I2D: score=3 
    PRKACAP176123, ENSP000003095914I2D: score=3 STRING: ENSP00000309591
    SKIP127553, ENSP000003677974I2D: score=2 STRING: ENSP00000367797
    About this table

    Gene Ontology (GO): 5/60 biological process terms (GO ID links to tree view) (see all 60):    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



    Drugs & Compounds
    for GLI2 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

    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 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 

    Transcripts
    for GLI2 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 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)

    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 plasmid: GLI2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GLI2 (see all 7)
    OriGene shRNA RFP: GLI2
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    Clone
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    Primer
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    Additional cDNA 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):

    AI379285 W79695 AW089214 AA620825 AI204540 N75386 AY493739 CA430900 
    W01898 AI089685 AI822132 AW964168 AY493737 NM_005270 AB007295 NM_030381 
    D14828 AY493738 AB007298 AA375858 AU152811 NM_030379 D14827 BX103004 

    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

    Expression
    for GLI2 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

    GLI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCAACTTGT

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

    GLI2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/35 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 35) 
    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: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    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
    for GLI2 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 GLI2 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 62(a)
    		 1 ↔ 1
    		 1(84445433-84474094)
    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)    		     --
    worm
    (Caenorhabditis elegans)    		 Secernentea tra-13 Expression: all stages 58(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
    		 16(a)
    15(a)
    		 many ↔ many
    many ↔ many
    		 2(20795085-20798606)
    5(321102-324421)


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

    Paralogs
    for GLI2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GLI2 gene
    ZNF762  GLI12  ZIC22  YY12  ZIC12  GLIS22  ZNF1432  GLI32  
    YY22  MTF12  ZIC32  ZNF4102  ZFP422  GLIS12  ZIC42  GLIS32  
    ZIC52  
    18/36 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



    Genomic Variants
    for GLI2 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

    10/3793 NCBI SNPs in GLI2 are shown (see all 3793)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs101961091,2
    		C,F,H,--113875426(+) ACCACC/TTTCTT 1 -- us2k19Minor allele frequency- T:0.06NS EA NA WA 1114
    rs1122521951,2
    		C,--113875498(+) CAAGGC/TGGGCA 1 -- us2k10--------
    rs133907601,2
    		C,F,--113875518(+) aggtcC/Aggagt 1 -- us2k1 tfbs32Minor allele frequency- A:0.50NA WA 4
    rs134167181,2
    		C,F,A,--113875719(+) ctccaG/Tctcaa 1 -- us2k15Minor allele frequency- T:0.10NA WA CSA 127
    rs795021161,2
    		--113875861(+) TGCCCC/TGAATC 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs780173821,2
    		F,--113875868(+) AATCCC/TGCTGG 1 -- us2k11Minor allele frequency- T:0.06NA 120
    rs728355381,2
    		C,--113876018(+) CCCTGG/TGTCAC 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs48486301,2
    		C,F,A,H,--113876067(+) ACACAG/ACAATG 1 -- us2k123Minor allele frequency- A:0.26NS EA NA WA CSA 2693
    rs753043721,2
    		--113876098(+) GAGTCA/CGTCCT 1 -- us2k11Minor allele frequency- C:0.01NA 120
    rs75929741,2
    		C,--113876268(+) GGCAGC/TGCTGC 1 -- us2k12Minor allele frequency- T:0.13WA 120

    HapMap Linkage Disequilibrium report for GLI2 (121493199 - 121743199 bp, first 250kb of GLI2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GLI2
         1 CNV: 68144
    Human Gene Mutation Database (HGMD): GLI2

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    Disorders / Diseases
    for GLI2 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
    GLI2 for disorders           About GeneDecksing

    OMIM gene information: 165230   
    OMIM disorders: 610829  
    UniProtKB/Swiss-Prot: GLI2_HUMAN, P10070
  • Defects in GLI2 are the cause of holoprosencephaly type 9 (HPE9) [MIM:610829]; also called pituitary anomalies
    • with holoprosencephaly-like features. The primary features of this disease include defective anterior pituitary
    formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like
    midfacial hypoplasia. Holoprosencephaly is the most common 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

    20/39 diseases for GLI2 (see all 39):    About MalaCards
    pallister-hall syndrome    greig cephalopolysyndactyly syndrome    postaxial polydactyly type a    pituitary anomalies with holoprosencephaly-like features
    polydactyly    htlv-1 associated myelopathy    bamforth-lazarus syndrome    embryonal carcinoma
    holoprosencephaly, recurrent infections, and monocytosis    diffuse large b-cell lymphoma    human t-cell leukemia virus type 1    cleft lip/palate
    tropical spastic paraparesis    spastic paraparesis    holoprosencephaly    carcinoma
    b-cell lymphomas    vacterl association    cleft lip    primary biliary cirrhosis

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

    8 Novoseek 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
    Holoprosencephaly

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

    Export disorders for GLI2 gene to outside databases

    Publications
    for GLI2 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 GLI2 gene, integrated from 9 sources (see all 149):
    (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. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (2005)
    7. Gli2 upregulates cFlip and renders basal cell carcinoma cells resistant to death ligand-mediated apoptosis. (PubMed id 18264131)1, 9 Kump E....Erb P. (2008)
    8. GLI2 is expressed in normal human epidermis and BCC and induces GLI1 expression by binding to its promoter. (PubMed id 15175043)1, 9 Ikram M.S....Philpott M. (2004)
    9. Interaction of Gli2 with CREB protein on DNA elements in the long terminal repeat of human T-cell leukemia virus type 1 is responsible for transcriptional activation by tax protein. (PubMed id 10074179)1, 9 Dan S....Yoshida M. (1999)
    10. Induction of sonic hedgehog mediators by transforming growth factor-beta: Smad3-dependent activation of Gli2 and Gli1 expression in vitro and in vivo. (PubMed id 17638910)1, 9 Dennler S....Mauviel A. (2007)

    External Searches for GLI2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing GLI2 gene

    (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

    Other Databases showing GLI2 gene

    (According to HUGE)
    About This Section
    		   --

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

    Intellectual Property
    for GLI2 gene

    (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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