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    GLI3 GLI family zinc finger 3 [ Homo sapiens (human) ]

    Gene ID: 2737, updated on 12-Mar-2017
    Official Symbol
    GLI3provided by HGNC
    Official Full Name
    GLI family zinc finger 3provided by HGNC
    Primary source
    HGNC:HGNC:4319
    See related
    Ensembl:ENSG00000106571 MIM:165240; Vega:OTTHUMG00000023630
    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
    PHS; ACLS; GCPS; PAPA; PAPB; PAP-A; PAPA1; PPDIV; GLI3FL; GLI3-190
    Summary
    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]
    Orthologs
    Location:
    7p14.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (41960949..42237019, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (42000547..42277469, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene INHBA antisense RNA 1 Neighboring gene uncharacterized LOC107986788 Neighboring gene uncharacterized LOC105375248 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 30 Neighboring gene uncharacterized LOC105375249 Neighboring gene uncharacterized LOC105375250

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
    NHGRI GWA Catalog
    Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
    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
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    • 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...
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
    • 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...
    • GLI3 is processed to GLI3R by the proteasome, organism-specific biosystem (from REACTOME)
      GLI3 is processed to GLI3R by the proteasome, organism-specific biosystemIn the absence of Hh signaling, the majority of full-length GLI3 is partially processed by the proteasome to a shorter form that serves as the principal repressor of Hh target genes (Wang et al, 2000...
    • 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 family of proteins are signaling proteins that are crucial for a number of physiological processes including morphogenesis during development. In adult organisms, it is also involved in ...
    • 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) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
    • Hedgehog signaling pathway, conserved biosystem (from KEGG)
      Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
    • 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 ...
    • Tgif disruption of Shh signaling, organism-specific biosystem (from WikiPathways)
      Tgif disruption of Shh signaling, organism-specific biosystemMutations in the Sonic Hedgehog(SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause HPE. HPE is a severe human genetic disease affecting craniofa...
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anterior semicircular canal development IEA
    Inferred from Electronic Annotation
    more info
     
    anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    artery development IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation involved in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digestive tract development TAS
    Traceable Author Statement
    more info
    PubMed 
    embryonic digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    forebrain dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    forebrain radial glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    frontal suture morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    hindgut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    lambdoid suture morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    lateral ganglionic eminence cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    lateral semicircular canal development IEA
    Inferred from Electronic Annotation
    more info
     
    layer formation in cerebral cortex IEA
    Inferred from Electronic Annotation
    more info
     
    limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland specification IEA
    Inferred from Electronic Annotation
    more info
     
    melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of alpha-beta T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative thymic T cell selection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nose morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    optic nerve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of alpha-beta T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein import into nucleus 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 from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of bone development IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    sagittal suture morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway TAS
    Traceable Author Statement
    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 spinal cord motor neuron cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway involved in ventral spinal cord interneuron specification IEA
    Inferred from Electronic Annotation
    more info
     
    thymocyte apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tongue development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    wound healing IEA
    Inferred from Electronic Annotation
    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
     
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with mediator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    transcriptional repressor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    transcriptional activator GLI3
    Names
    GLI-Kruppel family member GLI3
    glioma-associated oncogene family zinc finger 3
    oncogene GLI3
    zinc finger protein GLI3

    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_008434.1 RefSeqGene

      Range
      5001..281072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000168.5NP_000159.3  transcriptional activator GLI3

      See identical proteins and their annotated locations for NP_000159.3

      Status: REVIEWED

      Source sequence(s)
      AA330409, AC005028, AI863961, BC113616, BI497308, DA713549
      Consensus CDS
      CCDS5465.1
      UniProtKB/Swiss-Prot
      P10071
      Related
      ENSP00000379258, OTTHUMP00000159085, ENST00000395925, OTTHUMT00000250806
      Conserved Domains (2) summary
      sd00017
      Location:548570
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:562589
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      41960949..42237019 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515274.2XP_011513576.1  transcriptional activator GLI3 isoform X2

      Conserved Domains (2) summary
      sd00017
      Location:489511
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:503530
      zf-H2C2_2; Zinc-finger double domain
    2. XM_017011997.1XP_016867486.1  transcriptional activator GLI3 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      42003855..42280223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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