GLI3 (GLI family zinc finger 3)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GLI3 (GLI family zinc finger 3)

Identity

Alias_names	GCPS
	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 alias	GLI3-190
	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 C7orf10	GLI3 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 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
Aliases	ACLS; 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 DataPortal	ENSG00000106571
TCGA cBioPortal	GLI3
AceView (NCBI)	GLI3
Genatlas (Paris)	GLI3
WikiGenes	2737
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)
Ensembl	GLI3 - 7p14.1 [CytoView hg19] GLI3 - 7p14.1 [CytoView hg38]
Mapping of homologs : NCBI	GLI3 [Mapview hg19] GLI3 [Mapview hg38]
OMIM	146510 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 : Unigene	Hs.21509 [ NCBI ]
CGAP (NCI)	Hs.21509
Alternative Splicing Gallery	ENSG00000106571
Gene Expression	GLI3 [ 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]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	2737
GTEX Portal (Tissue expression)	GLI3
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P10071 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P10071 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P10071
Splice isoforms : SwissVar	P10071
PhosPhoSitePlus	P10071
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 mutations	2737
Blocks (Seattle)	GLI3
PDB (SRS)	4BLD
PDB (PDBSum)	4BLD
PDB (IMB)	4BLD
PDB (RSDB)	4BLD
Structural Biology KnowledgeBase	4BLD
SCOP (Structural Classification of Proteins)	4BLD
CATH (Classification of proteins structures)	4BLD
Superfamily	P10071
Human Protein Atlas	ENSG00000106571
Peptide Atlas	P10071
HPRD	01313
IPI	IPI00018889 IPI00925202 IPI00925084
	Protein Interaction databases
DIP (DOE-UCLA)	P10071
IntAct (EBI)	P10071
FunCoup	ENSG00000106571
BioGRID	GLI3
STRING (EMBL)	GLI3
ZODIAC	GLI3
	Ontologies - Pathways
QuickGO	P10071
Ontology : AmiGO	negative 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-EBI	negative 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 : BIOCARTA	Sonic Hedgehog (Shh) Pathway [Genes]
Pathways : KEGG	Hedgehog signaling pathway Pathways in cancer Basal cell carcinoma
NDEx Network	GLI3
Atlas of Cancer Signalling Network	GLI3
Wikipedia pathways	GLI3
	Orthology - Evolution
OrthoDB	2737
GeneTree (enSembl)	ENSG00000106571
Phylogenetic Trees/Animal Genes : TreeFam	GLI3
HOVERGEN	P10071
HOGENOM	P10071
Homologs : HomoloGene	GLI3
Homology/Alignments : Family Browser (UCSC)	GLI3
	Gene fusions - Rearrangements
Fusion : Mitelman	GLI3/FAM3B [7p14.1/21q22.3]
Fusion : Mitelman	GLI3/HIBADH [7p14.1/7p15.2] [t(7;7)(p14;p15)]
Fusion : Mitelman	GLI3/SUGCT [7p14.1/7p14.1] [t(7;7)(p14;p14)]
Fusion : Mitelman	GLI3/TMEM243 [7p14.1/7q21.12] [t(7;7)(p14;q21)]
Fusion: TCGA	GLI3 7p14.1 C7orf10 KIRC
Fusion: TCGA	GLI3 7p14.1 C7orf23 LGG
Fusion: TCGA	GLI3 7p14.1 HIBADH 7p15.2 LUAD
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	GLI3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	GLI3
dbVar	GLI3
ClinVar	GLI3
1000_Genomes	GLI3
Exome Variant Server	GLI3
ExAC (Exome Aggregation Consortium)	GLI3 (select the gene name)
Genetic variants : HAPMAP	2737
Genomic Variants (DGV)	GLI3 [DGVbeta]
DECIPHER	GLI3 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	GLI3
	Mutations
ICGC Data Portal	GLI3
TCGA Data Portal	GLI3
Broad Tumor Portal	GLI3
OASIS Portal	GLI3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	GLI3 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	GLI3
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
BioMuta	search 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)
intoGen	GLI3
Cancer3D	GLI3(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	146510 165240 174200 174700 175700 189960 241800
Orphanet	405 2011 2130 20987 21027 21026 21025 21030 21029 21028
Medgen	GLI3
Genetic Testing Registry	GLI3
NextProt	P10071 [Medical]
TSGene	2737
GENETests	GLI3
Target Validation	GLI3
Huge Navigator	GLI3 [HugePedia]
snp3D : Map Gene to Disease	2737
BioCentury BCIQ	GLI3
ClinGen	GLI3 (curated)
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	2737
Chemical/Pharm GKB Gene	PA28722
Clinical trial	GLI3
	Miscellaneous
canSAR (ICR)	GLI3 (select the gene name)
	Probes
	Litterature
PubMed	133 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	GLI3
EVEX	GLI3
GoPubMed	GLI3
iHOP	GLI3

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Tue Aug 1 17:02:05 CEST 2017

Home Genes Leukemias Solid Tumors Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

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jlhuret@AtlasGeneticsOncology.org.

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GLI3 (GLI family zinc finger 3)

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

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