Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GLI3 (GLI family zinc finger 3)

Identity

Alias_namesGCPS
PHS
Greig cephalopolysyndactyly syndrome
GLI-Kruppel family member GLI3
glioma-associated oncogene family zinc finger 3
Alias_symbol (synonym)PAP-A
PAPA
PAPA1
PAPB
ACLS
PPDIV
Other aliasGLI3-190
GLI3FL
HGNC (Hugo) GLI3
LocusID (NCBI) 2737
Atlas_Id 40719
Location 7p14.1  [Link to chromosome band 7p14]
Location_base_pair Starts at 41960950 and ends at 42237019 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Soft Tissues: Pericytoma with t(7;12)(p22;q13) ACTB/GLI1


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  2737  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]  chr7:41960950-42237019 [Contig_View]  GLI3 [Vega]
ICGC DataPortalENSG00000106571
TCGA cBioPortalGLI3
AceView (NCBI)GLI3
Genatlas (Paris)GLI3
WikiGenes2737
SOURCE (Princeton)GLI3
Genetics Home Reference (NIH)GLI3
Genomic and cartography
GoldenPath hg38 (UCSC)GLI3  -     chr7:41960950-42237019 -  7p14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GLI3  -     7p14.1   [Description]    (hg19-Feb_2009)
EnsemblGLI3 - 7p14.1 [CytoView hg19]  GLI3 - 7p14.1 [CytoView hg38]
Mapping of homologs : NCBIGLI3 [Mapview hg19]  GLI3 [Mapview hg38]
OMIM146510   165240   174200   174700   175700   189960   241800   
Gene and transcription
Genbank (Entrez)AA330409 AI863961 AK299299 AK308429 BC032660
RefSeq transcript (Entrez)NM_000168
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GLI3
Cluster EST : UnigeneHs.21509 [ NCBI ]
CGAP (NCI)Hs.21509
Alternative Splicing GalleryENSG00000106571
Gene ExpressionGLI3 [ NCBI-GEO ]   GLI3 [ EBI - ARRAY_EXPRESS ]   GLI3 [ SEEK ]   GLI3 [ MEM ]
Gene Expression Viewer (FireBrowse)GLI3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2737
GTEX Portal (Tissue expression)GLI3
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
Splice isoforms : SwissVarP10071
PhosPhoSitePlusP10071
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)GLI3    Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)GLI3
DMDM Disease mutations2737
Blocks (Seattle)GLI3
PDB (SRS)4BLD   
PDB (PDBSum)4BLD   
PDB (IMB)4BLD   
PDB (RSDB)4BLD   
Structural Biology KnowledgeBase4BLD   
SCOP (Structural Classification of Proteins)4BLD   
CATH (Classification of proteins structures)4BLD   
SuperfamilyP10071
Human Protein AtlasENSG00000106571
Peptide AtlasP10071
HPRD01313
IPIIPI00018889   IPI00925202   IPI00925084   
Protein Interaction databases
DIP (DOE-UCLA)P10071
IntAct (EBI)P10071
FunCoupENSG00000106571
BioGRIDGLI3
STRING (EMBL)GLI3
ZODIACGLI3
Ontologies - Pathways
QuickGOP10071
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  metanephros development  branching involved in ureteric bud morphogenesis  in utero embryonic development  positive regulation of neuroblast proliferation  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  cilium  axoneme  transcription from RNA polymerase II promoter  smoothened signaling pathway  axon guidance  hindgut morphogenesis  heart development  beta-catenin binding  negative regulation of cell proliferation  anterior/posterior pattern specification  proximal/distal pattern formation  protein processing  mediator complex  nuclear speck  transcriptional 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  positive regulation of chondrocyte differentiation  T cell differentiation in thymus  histone acetyltransferase binding  limb morphogenesis  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  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 from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  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 skeletal system morphogenesis  oligodendrocyte differentiation  palate 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  negative regulation of canonical Wnt signaling pathway  ciliary tip  ciliary base  regulation of bone development  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  metanephros development  branching involved in ureteric bud morphogenesis  in utero embryonic development  positive regulation of neuroblast proliferation  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  cytosol  cilium  axoneme  transcription from RNA polymerase II promoter  smoothened signaling pathway  axon guidance  hindgut morphogenesis  heart development  beta-catenin binding  negative regulation of cell proliferation  anterior/posterior pattern specification  proximal/distal pattern formation  protein processing  mediator complex  nuclear speck  transcriptional 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  positive regulation of chondrocyte differentiation  T cell differentiation in thymus  histone acetyltransferase binding  limb morphogenesis  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  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 from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  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 skeletal system morphogenesis  oligodendrocyte differentiation  palate 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  negative regulation of canonical Wnt signaling pathway  ciliary tip  ciliary base  regulation of bone development  
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
HOVERGENP10071
HOGENOMP10071
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]  [t(7;7)(p14;p15)]  
Fusion : MitelmanGLI3/SUGCT [7p14.1/7p14.1]  [t(7;7)(p14;p14)]  
Fusion : MitelmanGLI3/TMEM243 [7p14.1/7q21.12]  [t(7;7)(p14;q21)]  
Fusion: TCGAGLI3 7p14.1 C7orf10 KIRC
Fusion: TCGAGLI3 7p14.1 C7orf23 LGG
Fusion: TCGAGLI3 7p14.1 HIBADH 7p15.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGLI3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GLI3
dbVarGLI3
ClinVarGLI3
1000_GenomesGLI3 
Exome Variant ServerGLI3
ExAC (Exome Aggregation Consortium)GLI3 (select the gene name)
Genetic variants : HAPMAP2737
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]  
Mutations and Diseases : HGMDGLI3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GLI3
DgiDB (Drug Gene Interaction Database)GLI3
DoCM (Curated mutations)GLI3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GLI3 (select a term)
intoGenGLI3
Cancer3DGLI3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM146510    165240    174200    174700    175700    189960    241800   
Orphanet405    2011    2130    20987    21027    21026    21025    21030    21029    21028   
MedgenGLI3
Genetic Testing Registry GLI3
NextProtP10071 [Medical]
TSGene2737
GENETestsGLI3
Target ValidationGLI3
Huge Navigator GLI3 [HugePedia]
snp3D : Map Gene to Disease2737
BioCentury BCIQGLI3
ClinGenGLI3 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2737
Chemical/Pharm GKB GenePA28722
Clinical trialGLI3
Miscellaneous
canSAR (ICR)GLI3 (select the gene name)
Probes
Litterature
PubMed133 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGLI3
EVEXGLI3
GoPubMedGLI3
iHOPGLI3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:35:21 CEST 2017

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