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	NR2E1
Previous Symbol	TLX
Symbol Alias	TLL, XTLL
Approved Name	nuclear receptor subfamily 2, group E, member 1
Location	6q21
Position	chr6:108166058-108188809, 1
External Links	HGNC: 7973 Entrez Gene: 7101 Ensembl: ENSG00000112333 UCSC: uc032xhm.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kumar, R. A., 2008	SNP: rs127503, rs217520, rs2233488, rs588409 Other variant: NR2E1_g. -1429	NR2E1was associated with bipolar disorder I and II [odds ratio (OR=0.77, P=0.013), bipolar disorder I (OR=0.77, P=0.015), bipolar disorder in females (OR=0.72, P=0.009), and with age at onset 25 years (OR=0.67, P=0.006)], all of which remained significant after correcting for multiple comparisons.. NR2E1was associated with bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 40)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007399	nervous system development	biological process	TAS[9628820]	40
GO:0003707	steroid hormone receptor activity	molecular function	IEA	10
GO:0043565	sequence-specific DNA binding	molecular function	IEA	29

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:2000179	positive regulation of neural precursor cell proliferation	biological process	IEA	1
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0021960	anterior commissure morphogenesis	biological process	IEA	1
GO:0048814	regulation of dendrite morphogenesis	biological process	IEA	4
GO:0043401	steroid hormone mediated signaling pathway	biological process	IEA	10
GO:0035019	somatic stem cell maintenance	biological process	IEA	6
GO:2000178	negative regulation of neural precursor cell proliferation	biological process	IEA	2
GO:0060041	retina development in camera-type eye	biological process	IEA	4
GO:0007601	visual perception	biological process	IEA	15
GO:0021872	forebrain generation of neurons	biological process	IEA	1
GO:0045665	negative regulation of neuron differentiation	biological process	IEA	8
GO:0045766	positive regulation of angiogenesis	biological process	IEA	11
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IEA	62
GO:0021819	layer formation in cerebral cortex	biological process	IEA	3
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	molecular function	IEA	14
GO:2000648	positive regulation of stem cell proliferation	biological process	IEA	2
GO:0035176	social behavior	biological process	IEA	17
GO:0021772	olfactory bulb development	biological process	IEA	4
GO:0060291	long-term synaptic potentiation	biological process	IEA	14
GO:0010467	gene expression	biological process	TAS	41
GO:0043066	negative regulation of apoptotic process	biological process	IEA	46
GO:0002118	aggressive behavior	biological process	IEA	4
GO:0045787	positive regulation of cell cycle	biological process	IEA	4
GO:0008270	zinc ion binding	molecular function	IEA	77
GO:0090049	regulation of cell migration involved in sprouting angiogenesis	biological process	IEA	1
GO:0001662	behavioral fear response	biological process	IEA	16
GO:0048712	negative regulation of astrocyte differentiation	biological process	IEA	5
GO:0021542	dentate gyrus development	biological process	IEA	2
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IEA	18
GO:0045165	cell fate commitment	biological process	IEA	3
GO:0042826	histone deacetylase binding	molecular function	IEA	13
GO:0006367	transcription initiation from RNA polymerase II promoter	biological process	TAS	20
GO:0030198	extracellular matrix organization	biological process	IEA	26
GO:0021764	amygdala development	biological process	IEA	1
GO:0060164	regulation of timing of neuron differentiation	biological process	IEA	2
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IEA	91
GO:0021895	cerebral cortex neuron differentiation	biological process	IEA	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 9)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs127503	chr6:108158429 - 108158429(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs588409	chr6:108237076 - 108237076(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs2233488	chr6:108166566 - 108166566(1)	5_prime_UTR_variant; upstream_gene_variant	1(0/1/0)
rs217520	chr6:108172145 - 108172145(1)	intron_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs217529	chr6:108179437 - 108179437(1)	downstream_gene_variant; intron_variant
rs217526	chr6:108178521 - 108178521(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs2233492	chr6:108174746 - 108174746(1)	intron_variant; upstream_gene_variant
rs385029	chr6:108170604 - 108170604(1)	intron_variant; upstream_gene_variant
rs383319	chr6:108168258 - 108168258(1)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
NR2E1_g. -1429	point mutation		1 (0/1/0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
6q16-q21	chr6:100000000-114200000	1 (0/0/1)
Chr 6	chr6:0-170805979	3 (0/3/0)
6q21	chr6:105000000-114200000	4 (1/2/1)
6q14-22	chr6:75200000-130000000	1 (0/0/1)
6q21-22	chr6:105000000-130000000	1 (0/0/1)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
18205168	No association was detected with schizophrenia.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
18205168	689	Negative

Gene relationship with MDD

View in gBrowse

Region: chr6:108166058..108188809 View in gBrowse