Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GLI3
Previous Symbol	GCPS, PHS
Symbol Alias	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV
Approved Name	GLI family zinc finger 3
Previous Name	Greig cephalopolysyndactyly syndrome, "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"
Name Alias	zinc finger protein GLI3, "oncogene GLI3", "DNA-binding protein"
Location	7p13
Position	chr7:41960950-42237870, -1
External Links	HGNC: 4319 Entrez Gene: 2737 Ensembl: ENSG00000106571 UCSC: uc011kbh.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Chen, X., 2015	SNP: rs3735361	GLI3 was implicated in neurological and psychiatric disease	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 82)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0033077	T cell differentiation in thymus	biological process	ISS	3
GO:0005634	nucleus	cellular component	IDA[10693759]	283
GO:0007411	axon guidance	biological process	IEA	60
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[10077605]	66

GO terms by database search (count: 78)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0021775	smoothened signaling pathway involved in ventral spinal cord interneuron specification	biological process	IEA	2
GO:0017053	transcriptional repressor complex	cellular component	IEA	5
GO:0021766	hippocampus development	biological process	IEA	7
GO:0072372	primary cilium	cellular component	IEA	5
GO:0043586	tongue development	biological process	IEA	2
GO:0042826	histone deacetylase binding	molecular function	IDA[12435627]	13
GO:0060364	frontal suture morphogenesis	biological process	IEA	1
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	biological process	IEA	2
GO:0035108	limb morphogenesis	biological process	IMP[18478223]	3
GO:0003682	chromatin binding	molecular function	IEA	23
GO:0060875	lateral semicircular canal development	biological process	IEA	1
GO:0043066	negative regulation of apoptotic process	biological process	IEA	46
GO:0016485	protein processing	biological process	IEA	5
GO:0021861	forebrain radial glial cell differentiation	biological process	IEA	2
GO:0060594	mammary gland specification	biological process	IEA	1
GO:0005829	cytosol	cellular component	IDA[18559511]; TAS	223
GO:0097542	ciliary tip	cellular component	TAS	5
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IDA[12435627]	43
GO:0022018	lateral ganglionic eminence cell proliferation	biological process	IEA	1
GO:0045669	positive regulation of osteoblast differentiation	biological process	IEA	7
GO:0001658	branching involved in ureteric bud morphogenesis	biological process	IEA	6
GO:0008285	negative regulation of cell proliferation	biological process	IEA	41
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0045665	negative regulation of neuron differentiation	biological process	IEA	8
GO:0021801	cerebral cortex radial glia guided migration	biological process	IEA	2
GO:0060840	artery development	biological process	IEA	1
GO:0045060	negative thymic T cell selection	biological process	ISS	1
GO:0030318	melanocyte differentiation	biological process	IEA	3
GO:0002052	positive regulation of neuroblast proliferation	biological process	IEA	4
GO:0048704	embryonic skeletal system morphogenesis	biological process	IEA	3
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0007224	smoothened signaling pathway	biological process	TAS[11001584]	5
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IC	18
GO:0021798	forebrain dorsal/ventral pattern formation	biological process	IEA	1
GO:0090090	negative regulation of canonical Wnt signaling pathway	biological process	IDA[17331723]	9
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[10693759]	62
GO:0009954	proximal/distal pattern formation	biological process	IEA	3
GO:0045893	positive regulation of transcription, DNA-templated	biological process	ISS	58
GO:0001656	metanephros development	biological process	IEA	8
GO:0016607	nuclear speck	cellular component	IEA	16
GO:0008013	beta-catenin binding	molecular function	IPI[17331723]	14
GO:0060367	sagittal suture morphogenesis	biological process	IEA	1
GO:0021776	smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	biological process	IEA	2
GO:0030324	lung development	biological process	IEA	9
GO:0007507	heart development	biological process	IEA	20
GO:0070242	thymocyte apoptotic process	biological process	ISS	2
GO:0048589	developmental growth	biological process	IEA	7
GO:0048557	embryonic digestive tract morphogenesis	biological process	IEA	4
GO:0046638	positive regulation of alpha-beta T cell differentiation	biological process	ISS	1
GO:0005929	cilium	cellular component	IDA[16254602]	10
GO:0042060	wound healing	biological process	IEA	9
GO:0060021	palate development	biological process	IEA	6
GO:0045879	negative regulation of smoothened signaling pathway	biological process	ISS	1
GO:0097546	ciliary base	cellular component	TAS	6
GO:0009952	anterior/posterior pattern specification	biological process	IEA	6
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	molecular function	IDA[2118997]	23
GO:0048566	embryonic digestive tract development	biological process	TAS[11001584]	4
GO:0032332	positive regulation of chondrocyte differentiation	biological process	IEA	2
GO:0042733	embryonic digit morphogenesis	biological process	TAS[11001584]	6
GO:0042307	positive regulation of protein import into nucleus	biological process	IEA	1
GO:0046639	negative regulation of alpha-beta T cell differentiation	biological process	ISS	1
GO:0061005	cell differentiation involved in kidney development	biological process	IEA	1
GO:0016592	mediator complex	cellular component	IDA[17000779]	5
GO:0043627	response to estrogen	biological process	IEA	4
GO:0060873	anterior semicircular canal development	biological process	IEA	1
GO:0005515	protein binding	molecular function	IPI[10806483]	563
GO:0035035	histone acetyltransferase binding	molecular function	IPI[10075717]	2
GO:0048709	oligodendrocyte differentiation	biological process	IEA	5
GO:0005737	cytoplasm	cellular component	IDA[10077605]	322
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0042475	odontogenesis of dentin-containing tooth	biological process	IEA	8
GO:0007442	hindgut morphogenesis	biological process	IEA	2
GO:0043585	nose morphogenesis	biological process	TAS[11001584]	1
GO:0021631	optic nerve morphogenesis	biological process	IEA	2
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[17000779]; IMP[18559511]	91
GO:0048593	camera-type eye morphogenesis	biological process	IEA	3
GO:0060366	lambdoid suture morphogenesis	biological process	IEA	1

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05217	Basal cell carcinoma	8

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04340	Hedgehog signaling pathway	8

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
shhPathway	Sonic Hedgehog (Shh) Pathway	5

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GLI3	ZIC1	NO	in vitro;in vivo	11238441
GLI3	SUFU	YES	in vitro	10564661
GLI3	STK36	NO	in vivo	10806483
GLI3	SMAD2	NO	in vitro	9843199
GLI3	SMAD4	NO	in vitro	9843199
GLI3	SMAD3	NO	in vitro	9843199
GLI3	SMAD1	NO	in vitro	9843199
GLI3	ZIC3	NO	in vitro	11238441
GLI3	SKI	YES	in vitro;in vivo	12435627
GLI3	TWIST1	NO	in vitro	12142027

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3735361	chr7:41961326 - 41961326(1)	3_prime_UTR_variant; downstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)
7p15-q21	chr7:20900000-98400000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr7:41960950..42237870 View in gBrowse