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    GLI2 GLI family zinc finger 2 [ Homo sapiens (human) ]

    Gene ID: 2736, updated on 5-Jul-2015
    Official Symbol
    GLI2provided by HGNC
    Official Full Name
    GLI family zinc finger 2provided by HGNC
    Primary source
    HGNC:HGNC:4318
    See related
    Ensembl:ENSG00000074047; HPRD:01312; MIM:165230; Vega:OTTHUMG00000153741
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CJS; HPE9; PHS2; THP1; THP2
    Summary
    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]
    Orthologs
    See GLI2 in Epigenomics, MapViewer
    Location:
    2q14
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (120797291..120992653)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (121493441..121750229)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373585 Neighboring gene uncharacterized LOC105373586 Neighboring gene uncharacterized LOC105373587 Neighboring gene uncharacterized LOC105373588

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Holoprosencephaly 9
    MedGen: C1835819 OMIM: 610829 GeneReviews: Holoprosencephaly Overview
    Compare labs
    Pallister-hall syndrome 2
    MedGen: CN188939 OMIM: 615849 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-12-01)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2011-12-01)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    NHGRI GWA Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat binds to GLI2 and GLI2 binds to the human TGFB1 promoter, suggesting a potential mechanism for TGFB1 induction in HIV-1 infection PubMed
    tat GLI-2 physically interacts with HIV-1 Tat (demonstrated in GST pull-down experiments) and strongly synergizes with Tat during transactivation of the HIV-1 LTR promoter PubMed

    Go to the HIV-1, Human Interaction Database

    • Basal cell carcinoma, organism-specific biosystem (from KEGG)
      Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
    • Basal cell carcinoma, conserved biosystem (from KEGG)
      Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
    • Degradation of GLI2 by the proteasome, organism-specific biosystem (from REACTOME)
      Degradation of GLI2 by the proteasome, organism-specific biosystemThe primary role of the GLI2 protein is as an activator of Hh-dependent signaling upon pathway stimulation; in the absence of Hh ligand, a small fraction of GLI2 appears to be processed to a represso...
    • GLI proteins bind promoters of Hh responsive genes to promote transcription, organism-specific biosystem (from REACTOME)
      GLI proteins bind promoters of Hh responsive genes to promote transcription, organism-specific biosystemGLI proteins are bifunctional DNA-binding proteins that recognize consensus GLI sites 5'-GACCACCC-3' in the promoters of target genes (Kinzler and Vogelstein, 1990). Pathway induction upon ligand-bi...
    • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog proteins are a family of secreted ligands that include sonic hedgehog, Indian hedgehog and desert hedgehog in humans. Binding of Hedgehog ligands to their receptors, Patched 1 and 2, pre...
    • Hedgehog signaling, organism-specific biosystem (from KEGG)
      Hedgehog signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • Hedgehog signaling, conserved biosystem (from KEGG)
      Hedgehog signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
      Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
      Hedgehog signaling events mediated by Gli proteins
    • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
      Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...
    • Hedgehog signaling pathway, conserved biosystem (from KEGG)
      Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • Signaling events mediated by the Hedgehog family, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by the Hedgehog family, organism-specific biosystem
      Signaling events mediated by the Hedgehog family
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    branching morphogenesis of an epithelial tube ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cerebellar cortex morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cochlea morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    developmental growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic digestive tract development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    floor plate formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hindbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hindgut morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lung development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mammary gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    notochord regression IEA
    Inferred from Electronic Annotation
    more info
     
    odontogenesis of dentin-containing tooth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    osteoblast development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pattern specification process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pituitary gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    prostatic bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    proximal/distal pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    smoothened signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway involved in spinal cord motor neuron cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway involved in ventral spinal cord interneuron specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spinal cord dorsal/ventral patterning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spinal cord ventral commissure morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    tube development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventral midline development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventral spinal cord development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    axoneme IEA
    Inferred from Electronic Annotation
    more info
     
    ciliary base TAS
    Traceable Author Statement
    more info
     
    ciliary tip TAS
    Traceable Author Statement
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    motile primary cilium IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    zinc finger protein GLI2
    Names
    GLI family zinc finger protein 2
    GLI-Kruppel family member GLI2
    glioma-associated oncogene family zinc finger 2
    oncogene GLI2
    tax helper protein 1
    tax helper protein 2
    tax-responsive element-2 holding protein
    tax-responsive element-25-bp sequence binding protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009030.1 RefSeqGene

      Range
      5001..200363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005270.4NP_005261.2  zinc finger protein GLI2

      See identical proteins and their annotated locations for NP_005261.2

      Status: REVIEWED

      Source sequence(s)
      AB209354, AJ707583, DQ004398, DQ086814
      Consensus CDS
      CCDS33283.1
      UniProtKB/Swiss-Prot
      P10070
      UniProtKB/TrEMBL
      Q1PSW9
      UniProtKB/TrEMBL
      Q59FV5
      Related
      ENSP00000354586, ENST00000361492
      Conserved Domains (1) summary
      pfam13465
      Location:519546
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      120797291..120992653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712422.1XP_006712485.1  

      Conserved Domains (1) summary
      pfam13465
      Location:502529
      zf-H2C2_2; Zinc-finger double domain
    2. XM_011510974.1XP_011509276.1  

      Conserved Domains (3) summary
      pfam13465
      Location:377404
      zf-H2C2_2; Zinc-finger double domain
      sd00017
      Location:351355
      ZF_C2H2; Zn binding site [ion binding]
      sd00019
      Location:398416
      ZF_C2H2; Zn binding site [ion binding]
    3. XM_011510973.1XP_011509275.1  

      Conserved Domains (3) summary
      pfam13465
      Location:394421
      zf-H2C2_2; Zinc-finger double domain
      sd00017
      Location:368372
      ZF_C2H2; Zn binding site [ion binding]
      sd00019
      Location:415433
      ZF_C2H2; Zn binding site [ion binding]
    4. XM_011510971.1XP_011509273.1  

      See identical proteins and their annotated locations for XP_011509273.1

      Conserved Domains (3) summary
      pfam13465
      Location:454481
      zf-H2C2_2; Zinc-finger double domain
      sd00017
      Location:428432
      ZF_C2H2; Zn binding site [ion binding]
      sd00019
      Location:475493
      ZF_C2H2; Zn binding site [ion binding]
    5. XM_011510969.1XP_011509271.1  

      Conserved Domains (3) summary
      pfam13465
      Location:513540
      zf-H2C2_2; Zinc-finger double domain
      sd00017
      Location:487491
      ZF_C2H2; Zn binding site [ion binding]
      sd00019
      Location:534552
      ZF_C2H2; Zn binding site [ion binding]
    6. XM_011510970.1XP_011509272.1  

      Conserved Domains (3) summary
      pfam13465
      Location:472499
      zf-H2C2_2; Zinc-finger double domain
      sd00017
      Location:446450
      ZF_C2H2; Zn binding site [ion binding]
      sd00019
      Location:493511
      ZF_C2H2; Zn binding site [ion binding]
    7. XM_011510972.1XP_011509274.1  

      See identical proteins and their annotated locations for XP_011509274.1

      Conserved Domains (3) summary
      pfam13465
      Location:454481
      zf-H2C2_2; Zinc-finger double domain
      sd00017
      Location:428432
      ZF_C2H2; Zn binding site [ion binding]
      sd00019
      Location:475493
      ZF_C2H2; Zn binding site [ion binding]

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      121559011..121754271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_030379.1: Suppressed sequence

      Description
      NM_030379.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_030380.1: Suppressed sequence

      Description
      NM_030380.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    3. NM_030381.1: Suppressed sequence

      Description
      NM_030381.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.