Gene table of GLI3 : GLI family zinc finger 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with GLI3OMIM linkNumber of associated genesgenes
146510PALLISTER-HALL SYNDROMEClinVar, OMIM link to OMIM 2GLI3, KIF7
175700GREIG CEPHALOPOLYSYNDACTYLY SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1GLI3
241800HYPOTHALAMIC HAMARTOMASOMIM link to OMIM 1GLI3
174200POLYDACTYLY, POSTAXIAL, TYPE A1ClinVar, OMIM, HUMSAVAR link to OMIM 1GLI3
174700POLYDACTYLY, PREAXIAL IVClinVar, OMIM link to OMIM 1GLI3

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Annotation of the gene GLI3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Hedgehog signaling pathwayhsa043407.01
Pathways in cancerhsa052003.98
cAMP signaling pathwayhsa040245.05
Basal cell carcinomahsa052176.79
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Hedgehog 'off' stateR-HSA-56107876.19
GLI proteins bind promoters of Hh responsive genes to promote transcriptionR-HSA-563585111.4
GLI3 is processed to GLI3R by the proteasomeR-HSA-56107857.1
Hedgehog 'on' stateR-HSA-56326846.62
Signaling by HedgehogR-HSA-53583515.79
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
RNA polymerase II regulatory region DNA bindingGO:00010123.36
enzyme bindingGO:00198992.27
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010774.31
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
heterocyclic compound bindingGO:19013631.06
sequence-specific DNA bindingGO:00435652.79
sequence-specific double-stranded DNA bindingGO:19908373.2
ion bindingGO:00431671.36
core promoter proximal region sequence-specific DNA bindingGO:00009873.83
double-stranded DNA bindingGO:00036903.09
metal ion bindingGO:00468721.41
histone deacetylase bindingGO:00428265.08
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00009823.94
RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009813.29
cation bindingGO:00431691.4
regulatory region nucleic acid bindingGO:00010673.03
beta-catenin bindingGO:00080135.3
core promoter proximal region DNA bindingGO:00011593.82
transcription regulatory region DNA bindingGO:00442123.03
histone acetyltransferase bindingGO:00350356.41
transcription factor activity, sequence-specific DNA bindingGO:00037002.65
organic cyclic compound bindingGO:00971591.05
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012283.98
transcription regulatory region sequence-specific DNA bindingGO:00009763.24
RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009773.37
protein bindingGO:00055150.46
regulatory region DNA bindingGO:00009753.03
RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009783.88
chromatin bindingGO:00036823.64
nucleic acid binding transcription factor activityGO:00010712.65