Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	GLI2
Symbol Alias	THP2, HPE9, THP1
Approved Name	GLI family zinc finger 2
Previous Name	GLI-Kruppel family member GLI2, "glioma-associated oncogene family zinc finger 2"
Name Alias	tax-responsive element-2 holding protein, "tax helper protein 1", "tax helper protein 2"
Location	2q14
Position	chr2:120735623-120992653, 1
External Links	HGNC: 4318 Entrez Gene: 2736 Ensembl: ENSG00000074047 UCSC: uc010flp.3
No. of Studies	1 (Positive: 0; Negative: 1; 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
Gonzalez, S., 2014	SNP: rs1880542 Other variant: GLI2_Chr2:121444612, GLI2_Chr2:121464518	The associated SNP in this gene showed no significant association with BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 65)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043565	sequence-specific DNA binding	molecular function	IDA[15175043]	29
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[15994174]	66
GO:0016020	membrane	cellular component	IEA	137
GO:0007411	axon guidance	biological process	ISS	60
GO:0005634	nucleus	cellular component	IDA[9557682]	283

GO terms by database search (count: 60)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007442	hindgut morphogenesis	biological process	ISS	2
GO:0003682	chromatin binding	molecular function	IEA	23
GO:0009612	response to mechanical stimulus	biological process	IEA	7
GO:0005515	protein binding	molecular function	IPI[12435627]	563
GO:0097546	ciliary base	cellular component	TAS	6
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0048589	developmental growth	biological process	ISS	7
GO:0021517	ventral spinal cord development	biological process	ISS	3
GO:0001649	osteoblast differentiation	biological process	IDA[12165851]	9
GO:0009954	proximal/distal pattern formation	biological process	ISS	3
GO:0098586	cellular response to virus	biological process	IDA[9557682]	1
GO:0048666	neuron development	biological process	ISS	7
GO:0021775	smoothened signaling pathway involved in ventral spinal cord interneuron specification	biological process	ISS	2
GO:0060032	notochord regression	biological process	IEA	1
GO:0031512	motile primary cilium	cellular component	IEA	2
GO:0071407	cellular response to organic cyclic compound	biological process	IEA	5
GO:0048754	branching morphogenesis of an epithelial tube	biological process	ISS	3
GO:0060603	mammary gland duct morphogenesis	biological process	IEA	2
GO:0005829	cytosol	cellular component	TAS	223
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[15994174]; IMP[15994174]	62
GO:0008283	cell proliferation	biological process	IDA[15994174]	37
GO:0021965	spinal cord ventral commissure morphogenesis	biological process	ISS	2
GO:0002062	chondrocyte differentiation	biological process	IEA	1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[12165851]	91
GO:0021983	pituitary gland development	biological process	ISS	4
GO:0030902	hindbrain development	biological process	ISS	1
GO:0042475	odontogenesis of dentin-containing tooth	biological process	ISS	8
GO:0007224	smoothened signaling pathway	biological process	IDA[15994174]	5
GO:0044212	transcription regulatory region DNA binding	molecular function	IEA	17
GO:0060513	prostatic bud formation	biological process	IEA	1
GO:0021696	cerebellar cortex morphogenesis	biological process	ISS	3
GO:0001822	kidney development	biological process	ISS	13
GO:0033089	positive regulation of T cell differentiation in thymus	biological process	ISS	2
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	biological process	IEA	2
GO:0021508	floor plate formation	biological process	ISS	1
GO:0016607	nuclear speck	cellular component	IEA	16
GO:0009913	epidermal cell differentiation	biological process	IDA[12165851]	1
GO:0021513	spinal cord dorsal/ventral patterning	biological process	ISS	2
GO:0021776	smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	biological process	IEA	2
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[12165851]	58
GO:0097542	ciliary tip	cellular component	TAS	5
GO:0007507	heart development	biological process	ISS	20
GO:0007389	pattern specification process	biological process	ISS	4
GO:0008589	regulation of smoothened signaling pathway	biological process	IEA	7
GO:0032331	negative regulation of chondrocyte differentiation	biological process	IEA	1
GO:0001501	skeletal system development	biological process	ISS	16
GO:0048566	embryonic digestive tract development	biological process	ISS	4
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0045666	positive regulation of neuron differentiation	biological process	IEA	8
GO:0030879	mammary gland development	biological process	ISS	5
GO:0045740	positive regulation of DNA replication	biological process	IDA[12165851]	7
GO:0021938	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	biological process	IEA	1
GO:0002076	osteoblast development	biological process	ISS	1
GO:0042733	embryonic digit morphogenesis	biological process	IEA	6
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0030324	lung development	biological process	ISS	9
GO:0035295	tube development	biological process	ISS	1
GO:0090103	cochlea morphogenesis	biological process	IEA	3
GO:0008270	zinc ion binding	molecular function	IDA[8378770]	77
GO:0007418	ventral midline development	biological process	ISS	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: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GLI2	ZIC1	NO	in vitro;in vivo	11238441
GLI2	STK36	NO	in vivo	10806483
GLI2	SUFU	YES	in vitro	10564661
GLI2	FBXW11	NO	in vivo	16651270
GLI2	SKI	YES	yeast 2-hybrid	12435627

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)
rs1880542	chr2:120581008 - 120581008(1)		1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GLI2_Chr2:121464518		Exonic	1 (0/0/1)
GLI2_Chr2:121444612		Exonic	1 (0/0/1)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2q12.3-q22.1	chr2:106700000-141500000	1 (0/1/0)
Chr 2	chr2:0-242193529	3 (0/3/0)
2p11-q14	chr2:83100000-129100000	1 (0/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr2:120735623..120992653 View in gBrowse