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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:165240 Ensembl IDEnsembl:ENSG00000106571 HGNC IDHGNC:HGNC:4319 PHARMGKB IDPA28722 Map Location7p14.1 |
GO terms in GLI3
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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 |
Gene expression in normal tissue: GLI3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GLI3
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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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in GLI3
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |