Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

GLI3 (GLI family zinc finger 3)

Identity

Alias (NCBI)ACLS
GCPS
GLI3-190
GLI3FL
PAP-A
PAPA
PAPA1
PAPB
PHS
PPDIV
HGNC (Hugo) GLI3
HGNC Alias symbPAP-A
PAPA
PAPA1
PAPB
ACLS
PPDIV
HGNC Alias namezinc finger protein GLI3
 oncogene GLI3
 DNA-binding protein
HGNC Previous nameGCPS
 PHS
HGNC Previous nameGreig cephalopolysyndactyly syndrome
 GLI-Kruppel family member GLI3
 glioma-associated oncogene family zinc finger 3
LocusID (NCBI) 2737
Atlas_Id 40719
Location 7p14.1  [Link to chromosome band 7p14]
Location_base_pair Starts at 41960950 and ends at 42237209 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DUSP1 (5q35.1) / GLI3 (7p14.1)GLI3 (7p14.1) / FAM3B (21q22.3)GLI3 (7p14.1) / GLI3 (7p14.1)
GLI3 (7p14.1) / HIBADH (7p15.2)GLI3 (7p14.1) / MRPL48 (11q13.4)GLI3 (7p14.1) / SUGCT (7p14.1)
GLI3 (7p14.1) / TMEM243 (7q21.12)GLI3 7p14.1 C7orf10GLI3 7p14.1 C7orf23
GLI3 7p14.1 / HIBADH 7p15.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(7)(p11-15) solely

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Pallister Hall syndrome (PHS)

External links

 

Nomenclature
HGNC (Hugo)GLI3   4319
Cards
Entrez_Gene (NCBI)GLI3    GLI family zinc finger 3
AliasesACLS; GCPS; GLI3-190; GLI3FL; 
PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV
GeneCards (Weizmann)GLI3
Ensembl hg19 (Hinxton)ENSG00000106571 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106571 [Gene_View]  ENSG00000106571 [Sequence]  chr7:41960950-42237209 [Contig_View]  GLI3 [Vega]
ICGC DataPortalENSG00000106571
TCGA cBioPortalGLI3
AceView (NCBI)GLI3
Genatlas (Paris)GLI3
SOURCE (Princeton)GLI3
Genetics Home Reference (NIH)GLI3
Genomic and cartography
GoldenPath hg38 (UCSC)GLI3  -     chr7:41960950-42237209 -  7p14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GLI3  -     7p14.1   [Description]    (hg19-Feb_2009)
GoldenPathGLI3 - 7p14.1 [CytoView hg19]  GLI3 - 7p14.1 [CytoView hg38]
ImmunoBaseENSG00000106571
Genome Data Viewer NCBIGLI3 [Mapview hg19]  
OMIM146510   165240   174200   174700   175700   
Gene and transcription
Genbank (Entrez)AA330409 AI863961 AK299299 AK308429 BC032660
RefSeq transcript (Entrez)NM_000168
Consensus coding sequences : CCDS (NCBI)GLI3
Gene ExpressionGLI3 [ NCBI-GEO ]   GLI3 [ EBI - ARRAY_EXPRESS ]   GLI3 [ SEEK ]   GLI3 [ MEM ]
Gene Expression Viewer (FireBrowse)GLI3 [ Firebrowse - Broad ]
GenevisibleExpression of GLI3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2737
GTEX Portal (Tissue expression)GLI3
Human Protein AtlasENSG00000106571-GLI3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10071   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10071  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10071
PhosPhoSitePlusP10071
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)GLI-like    GLI3    Znf_C2H2_sf    Znf_C2H2_type   
Domain families : Pfam (Sanger)zf-C2H2 (PF00096)   
Domain families : Pfam (NCBI)pfam00096   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)GLI3
PDB (RSDB)4BLD   
PDB Europe4BLD   
PDB (PDBSum)4BLD   
PDB (IMB)4BLD   
Structural Biology KnowledgeBase4BLD   
SCOP (Structural Classification of Proteins)4BLD   
CATH (Classification of proteins structures)4BLD   
SuperfamilyP10071
AlphaFold pdb e-kbP10071   
Human Protein Atlas [tissue]ENSG00000106571-GLI3 [tissue]
HPRD01313
Protein Interaction databases
DIP (DOE-UCLA)P10071
IntAct (EBI)P10071
BioGRIDGLI3
STRING (EMBL)GLI3
ZODIACGLI3
Ontologies - Pathways
QuickGOP10071
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  metanephros development  branching involved in ureteric bud morphogenesis  in utero embryonic development  positive regulation of neuroblast proliferation  chromatin binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytoplasm  cytosol  cytosol  cilium  axoneme  regulation of transcription by RNA polymerase II  smoothened signaling pathway  smoothened signaling pathway  smoothened signaling pathway  axon guidance  hindgut morphogenesis  heart development  beta-catenin binding  negative regulation of cell population proliferation  anterior/posterior pattern specification  proximal/distal pattern formation  protein processing  nuclear speck  transcription repressor complex  optic nerve morphogenesis  hippocampus development  smoothened signaling pathway involved in ventral spinal cord interneuron specification  smoothened signaling pathway involved in spinal cord motor neuron cell fate specification  forebrain dorsal/ventral pattern formation  layer formation in cerebral cortex  forebrain radial glial cell differentiation  lateral ganglionic eminence cell proliferation  melanocyte differentiation  lung development  prostate gland development  positive regulation of chondrocyte differentiation  T cell differentiation in thymus  histone acetyltransferase binding  limb morphogenesis  mediator complex binding  wound healing  positive regulation of protein import into nucleus  odontogenesis of dentin-containing tooth  embryonic digit morphogenesis  histone deacetylase binding  negative regulation of apoptotic process  intracellular membrane-bounded organelle  nose morphogenesis  tongue development  response to estrogen  negative thymic T cell selection  negative regulation of neuron differentiation  positive regulation of osteoblast differentiation  negative regulation of smoothened signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of alpha-beta T cell differentiation  negative regulation of alpha-beta T cell differentiation  metal ion binding  embryonic digestive tract morphogenesis  embryonic digestive tract development  developmental growth  camera-type eye morphogenesis  embryonic neurocranium morphogenesis  oligodendrocyte differentiation  roof of mouth development  frontal suture morphogenesis  lambdoid suture morphogenesis  sagittal suture morphogenesis  mammary gland specification  smoothened signaling pathway involved in dorsal/ventral neural tube patterning  artery development  anterior semicircular canal development  lateral semicircular canal development  cell differentiation involved in kidney development  thymocyte apoptotic process  vocalization behavior  negative regulation of canonical Wnt signaling pathway  liver regeneration  ciliary tip  ciliary base  larynx morphogenesis  regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning  regulation of bone development  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  metanephros development  branching involved in ureteric bud morphogenesis  in utero embryonic development  positive regulation of neuroblast proliferation  chromatin binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytoplasm  cytosol  cytosol  cilium  axoneme  regulation of transcription by RNA polymerase II  smoothened signaling pathway  smoothened signaling pathway  smoothened signaling pathway  axon guidance  hindgut morphogenesis  heart development  beta-catenin binding  negative regulation of cell population proliferation  anterior/posterior pattern specification  proximal/distal pattern formation  protein processing  nuclear speck  transcription repressor complex  optic nerve morphogenesis  hippocampus development  smoothened signaling pathway involved in ventral spinal cord interneuron specification  smoothened signaling pathway involved in spinal cord motor neuron cell fate specification  forebrain dorsal/ventral pattern formation  layer formation in cerebral cortex  forebrain radial glial cell differentiation  lateral ganglionic eminence cell proliferation  melanocyte differentiation  lung development  prostate gland development  positive regulation of chondrocyte differentiation  T cell differentiation in thymus  histone acetyltransferase binding  limb morphogenesis  mediator complex binding  wound healing  positive regulation of protein import into nucleus  odontogenesis of dentin-containing tooth  embryonic digit morphogenesis  histone deacetylase binding  negative regulation of apoptotic process  intracellular membrane-bounded organelle  nose morphogenesis  tongue development  response to estrogen  negative thymic T cell selection  negative regulation of neuron differentiation  positive regulation of osteoblast differentiation  negative regulation of smoothened signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of alpha-beta T cell differentiation  negative regulation of alpha-beta T cell differentiation  metal ion binding  embryonic digestive tract morphogenesis  embryonic digestive tract development  developmental growth  camera-type eye morphogenesis  embryonic neurocranium morphogenesis  oligodendrocyte differentiation  roof of mouth development  frontal suture morphogenesis  lambdoid suture morphogenesis  sagittal suture morphogenesis  mammary gland specification  smoothened signaling pathway involved in dorsal/ventral neural tube patterning  artery development  anterior semicircular canal development  lateral semicircular canal development  cell differentiation involved in kidney development  thymocyte apoptotic process  vocalization behavior  negative regulation of canonical Wnt signaling pathway  liver regeneration  ciliary tip  ciliary base  larynx morphogenesis  regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning  regulation of bone development  sequence-specific double-stranded DNA binding  
Pathways : BIOCARTASonic Hedgehog (Shh) Pathway [Genes]   
Pathways : KEGGHedgehog signaling pathway    Pathways in cancer    Basal cell carcinoma   
NDEx NetworkGLI3
Atlas of Cancer Signalling NetworkGLI3
Wikipedia pathwaysGLI3
Orthology - Evolution
OrthoDB2737
GeneTree (enSembl)ENSG00000106571
Phylogenetic Trees/Animal Genes : TreeFamGLI3
Homologs : HomoloGeneGLI3
Homology/Alignments : Family Browser (UCSC)GLI3
Gene fusions - Rearrangements
Fusion : MitelmanGLI3/FAM3B [7p14.1/21q22.3]  
Fusion : MitelmanGLI3/HIBADH [7p14.1/7p15.2]  
Fusion : MitelmanGLI3/SUGCT [7p14.1/7p14.1]  
Fusion : MitelmanGLI3/TMEM243 [7p14.1/7q21.12]  
Fusion : QuiverGLI3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGLI3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GLI3
dbVarGLI3
ClinVarGLI3
MonarchGLI3
1000_GenomesGLI3 
Exome Variant ServerGLI3
GNOMAD BrowserENSG00000106571
Varsome BrowserGLI3
ACMGGLI3 variants
VarityP10071
Genomic Variants (DGV)GLI3 [DGVbeta]
DECIPHERGLI3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGLI3 
Mutations
ICGC Data PortalGLI3 
TCGA Data PortalGLI3 
Broad Tumor PortalGLI3
OASIS PortalGLI3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGLI3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGLI3
Mutations and Diseases : HGMDGLI3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGLI3
DgiDB (Drug Gene Interaction Database)GLI3
DoCM (Curated mutations)GLI3
CIViC (Clinical Interpretations of Variants in Cancer)GLI3
Cancer3DGLI3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM146510    165240    174200    174700    175700   
Orphanet405    2011    2130    20987    21027    21026    21025    21030    21029    21028   
DisGeNETGLI3
MedgenGLI3
Genetic Testing Registry GLI3
NextProtP10071 [Medical]
GENETestsGLI3
Target ValidationGLI3
Huge Navigator GLI3 [HugePedia]
ClinGenGLI3 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeGLI3
Protein Interactions : CTDGLI3
Pharm GKB GenePA28722
PharosP10071
Clinical trialGLI3
Miscellaneous
canSAR (ICR)GLI3
HarmonizomeGLI3
DataMed IndexGLI3
Probes
Litterature
PubMed183 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGLI3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:10:52 CEST 2021
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.