GLI3
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| GLI family zinc finger 3 | MIM:165240 | Ensembl:ENSG00000106571 | HGNC:HGNC:4319 | PA28722 | 7p14.1 |
GO terms in GLI3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001656 | metanephros development |
| BP | IEA | GO:0001658 | branching involved in ureteric bud morphogenesis |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0002052 | positive regulation of neuroblast proliferation |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | TAS | GO:0007224 | smoothened signaling pathway |
| BP | IEA | GO:0007411 | axon guidance |
| BP | IEA | GO:0007442 | hindgut morphogenesis |
| BP | IEA | GO:0007507 | heart development |
| BP | IEA | GO:0008285 | negative regulation of cell proliferation |
| BP | IEA | GO:0009952 | anterior/posterior pattern specification |
| BP | IEA | GO:0009954 | proximal/distal pattern formation |
| BP | IEA | GO:0016485 | protein processing |
| BP | IEA | GO:0021631 | optic nerve morphogenesis |
| BP | IEA | GO:0021766 | hippocampus development |
| BP | IEA | GO:0021775 | smoothened signaling pathway involved in ventral spinal cord interneuron specification |
| BP | IEA | GO:0021776 | smoothened signaling pathway involved in spinal cord motor neuron cell fate specification |
| BP | IEA | GO:0021798 | forebrain dorsal/ventral pattern formation |
| BP | IEA | GO:0021819 | layer formation in cerebral cortex |
| BP | IEA | GO:0021861 | forebrain radial glial cell differentiation |
| BP | IEA | GO:0022018 | lateral ganglionic eminence cell proliferation |
| BP | IEA | GO:0030318 | melanocyte differentiation |
| BP | IEA | GO:0030324 | lung development |
| BP | IEA | GO:0030850 | prostate gland development |
| BP | IEA | GO:0032332 | positive regulation of chondrocyte differentiation |
| BP | ISS | GO:0033077 | T cell differentiation in thymus |
| BP | IMP | GO:0035108 | limb morphogenesis |
| BP | IEA | GO:0042060 | wound healing |
| BP | IEA | GO:0042307 | positive regulation of protein import into nucleus |
| BP | IEA | GO:0042475 | odontogenesis of dentin-containing tooth |
| BP | TAS | GO:0042733 | embryonic digit morphogenesis |
| BP | IEA | GO:0043066 | negative regulation of apoptotic process |
| BP | TAS | GO:0043585 | nose morphogenesis |
| BP | IEA | GO:0043586 | tongue development |
| BP | IEA | GO:0043627 | response to estrogen |
| BP | ISS | GO:0045060 | negative thymic T cell selection |
| BP | IEA | GO:0045665 | negative regulation of neuron differentiation |
| BP | IEA | GO:0045669 | positive regulation of osteoblast differentiation |
| BP | ISS | GO:0045879 | negative regulation of smoothened signaling pathway |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | ISS | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0046638 | positive regulation of alpha-beta T cell differentiation |
| BP | ISS | GO:0046639 | negative regulation of alpha-beta T cell differentiation |
| BP | IEA | GO:0048557 | embryonic digestive tract morphogenesis |
| BP | TAS | GO:0048566 | embryonic digestive tract development |
| BP | IEA | GO:0048589 | developmental growth |
| BP | IEA | GO:0048593 | camera-type eye morphogenesis |
| BP | IEA | GO:0048704 | embryonic skeletal system morphogenesis |
| BP | IEA | GO:0048709 | oligodendrocyte differentiation |
| BP | IEA | GO:0060021 | roof of mouth development |
| BP | IEA | GO:0060364 | frontal suture morphogenesis |
| BP | IEA | GO:0060366 | lambdoid suture morphogenesis |
| BP | IEA | GO:0060367 | sagittal suture morphogenesis |
| BP | IEA | GO:0060594 | mammary gland specification |
| BP | IEA | GO:0060831 | smoothened signaling pathway involved in dorsal/ventral neural tube patterning |
| BP | IEA | GO:0060840 | artery development |
| BP | IEA | GO:0060873 | anterior semicircular canal development |
| BP | IEA | GO:0060875 | lateral semicircular canal development |
| BP | IEA | GO:0061005 | cell differentiation involved in kidney development |
| BP | ISS | GO:0070242 | thymocyte apoptotic process |
| BP | IDA | GO:0090090 | negative regulation of canonical Wnt signaling pathway |
| BP | IEA | GO:0097421 | liver regeneration |
| BP | IEA | GO:1903010 | regulation of bone development |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005929 | cilium |
| CC | IEA | GO:0005930 | axoneme |
| CC | IDA | GO:0016592 | mediator complex |
| CC | IEA | GO:0016607 | nuclear speck |
| CC | IEA | GO:0017053 | transcriptional repressor complex |
| CC | TAS | GO:0097542 | ciliary tip |
| CC | TAS | GO:0097546 | ciliary base |
| MF | IDA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IC | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008013 | beta-catenin binding |
| MF | IPI | GO:0035035 | histone acetyltransferase binding |
| MF | IDA | GO:0042826 | histone deacetylase binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: GLI3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GLI3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-5358351 | Signaling by Hedgehog |
| reactome | R-HSA-5610785 | GLI3 is processed to GLI3R by the proteasome |
| reactome | R-HSA-5610787 | Hedgehog 'off' state |
| reactome | R-HSA-5632684 | Hedgehog 'on' state |
| reactome | R-HSA-5635851 | GLI proteins bind promoters of Hh responsive genes to promote transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| pid | hedgehog_glipathway | Hedgehog signaling events mediated by Gli proteins |
| kegg | hsa04024 | cAMP signaling pathway - Homo sapiens (human) |
| kegg | hsa04340 | Hedgehog signaling pathway - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05217 | Basal cell carcinoma - Homo sapiens (human) |
| netpath | Pathway_Hedgehog | Hedgehog |
| wikipathways | WP2858 | Ectoderm Differentiation |
| wikipathways | WP3674 | Tgif disruption of Shh signaling |
| wikipathways | WP4204 | Tumor suppressor activity of SMARCB1 |
| wikipathways | WP4249 | Hedgehog Signaling Pathway |
| wikipathways | WP47 | Hedgehog Signaling Pathway |
| wikipathways | WP474 | Endochondral Ossification |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD60 | Quinoclamine | 3 |
| iGMDRD263 | AACOCF3 | 1 |
| iGMDRD147 | Prima-1 | 1 |
| iGMDRD300 | Tozasertib | 2 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD888 | Compound 44 | 5 |
| iGMDRD882 | CIL41 | 2 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD85 | Ursolic acid | 3 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD341 | Triacsin c | 3 |
| iGMDRD424 | Tamatinib | 1 |
| iGMDRD427 | ABT737 | 3 |
| iGMDRD144 | NSC95397 | 2 |
| iGMDRD150 | RITA | 3 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD599 | Salermide | 3 |
| iGMDRD554 | CHEMBL1434137 | 3 |
| iGMDRD330 | BRD4132 | 5 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GLI3
CLASSFICATION
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