Gene Report

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Basic Info

Approved Symbol	TLE4
Symbol Alias	E(spI), ESG, GRG4
Approved Name	transducin-like enhancer of split 4
Previous Name	transducin-like enhancer of split 4, homolog of Drosophila E(sp1), "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"
Location	9q21.32
Position	chr9:79571773-79726882, 1
External Links	HGNC: 11840 Entrez Gene: 7091 Ensembl: ENSG00000106829 UCSC: uc004alc.4
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Moskvina, V.,2009		In BP:Smallest P-value per gene=0.00011, Product of P truncation <=0.01=0.02999, Product of P truncation <=0.001=0.00392. It showed evidence for association with BD.	Positive	Comment on Study
Cichon, S.,2011	SNP: rs2209263	No positive signal in this gene was observed for BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[21630459]; NAS[1303260]	283
GO:0003714	transcription corepressor activity	molecular function	IEA	21

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003674	molecular_function	molecular function	ND	24
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IEA	62
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	molecular function	IEA	7
GO:0003682	chromatin binding	molecular function	IEA	23
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0070491	repressing transcription factor binding	molecular function	IEA	4
GO:0007219	Notch signaling pathway	biological process	TAS	14
GO:0006366	transcription from RNA polymerase II promoter	biological process	IEA	31
GO:0008150	biological_process	biological process	ND	24
GO:0016055	Wnt signaling pathway	biological process	IEA	12
GO:0005515	protein binding	molecular function	IPI[24676634]	563

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
TLE4	OTX1	NO	in vivo	15105370
TLE4	OTX2	YES	in vivo	15105370
TLE4	POU2F1	NO	in vitro	16002402
TLE4	PAX5	NO	in vitro;in vivo;yeast 2-hybrid	12153506 , 10811620
TLE4	MSX1	NO	in vitro	16002402

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2209263	chr9:80911728 - 80911728(1)		1(0/1/0)
rs914715	chr9:79695983 - 79695983(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
9q21-32	chr9:65000000-114900000	1 (0/1/0)
Chr 9	chr9:0-138394717	3 (0/3/0)
9q21-22	chr9:65000000-99800000	1 (0/1/0)
9q21.31	chr9:78500000-81500000	1 (0/0/1)
9q21	chr9:65000000-87800000	3 (1/1/1)
9p21.1-q21.32	chr9:28000000-84300000	1 (0/1/0)

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

Gene relationship with SZ

Reference	Description	Result Category
19065143	It showed no evidence for association with SZ.	Negative

Gene relationship with MDD

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Region: chr9:79571773..79726882 View in gBrowse