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	FOXO3
Previous Symbol	FKHRL1, FOXO3A
Symbol Alias	AF6q21, FOXO2
Approved Name	forkhead box O3
Location	6q21
Position	chr6:108559835-108684774, 1
External Links	HGNC: 3821 Entrez Gene: 2309 Ensembl: ENSG00000118689 UCSC: uc003psm.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
Magno, L. A.,2011	SNP: rs1536057, rs1935952, rs2802292, rs3813498 Haplotype: rs1536057 - rs2802292 - rs3813498 - rs1935952(A-G-C-G), rs1536057 - rs2802292 - rs3813498 - rs1935952(A-G-T-C), rs1536057 - rs2802292 - rs3813498 - rs1935952(A-G-T-G), rs1536057 - rs2802292 - rs3813498 - rs1935952(G-G-C-G), rs1536057 - rs2802292 - rs3813498 - rs1935952(G-G-T-C), rs1536057 - rs2802292 - rs3813498 - rs1935952(G-G-T-G), rs1536057 - rs2802292 - rs3813498 - rs1935952(G-T-C-G), rs1536057 - rs2802292 - rs3813498 - rs1935952(G-T-T-C), rs1536057 - rs2802292 - rs3813498 - rs1935952(G-T-T-G)	These data suggest that FOXO3A is a novel susceptibility locus for BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 42)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043565	sequence-specific DNA binding	molecular function	IDA[10102273]	29
GO:0003677	DNA binding	molecular function	IDA[21329882]	83
GO:0045087	innate immune response	biological process	TAS	49
GO:0016020	membrane	cellular component	IEA	137
GO:0005634	nucleus	cellular component	IDA[10102273]	283
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[14734530]	66

GO terms by database search (count: 36)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006366	transcription from RNA polymerase II promoter	biological process	IBA	31
GO:0009653	anatomical structure morphogenesis	biological process	IBA	6
GO:0045648	positive regulation of erythrocyte differentiation	biological process	IDA[14734530]	2
GO:0034599	cellular response to oxidative stress	biological process	ISS	7
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0043525	positive regulation of neuron apoptotic process	biological process	IMP[10102273]	11
GO:0006357	regulation of transcription from RNA polymerase II promoter	biological process	ISS	21
GO:0005829	cytosol	cellular component	IEA	223
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:2000377	regulation of reactive oxygen species metabolic process	biological process	IEA	2
GO:0001227	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	molecular function	IEA	2
GO:0048015	phosphatidylinositol-mediated signaling	biological process	TAS	17
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0005515	protein binding	molecular function	IPI[14976264]	563
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity	molecular function	IBA	6
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[10102273]	58
GO:0097150	neuronal stem cell maintenance	biological process	IEA	2
GO:0001221	transcription cofactor binding	molecular function	IEA	1
GO:0006417	regulation of translation	biological process	IDA[21329882]	5
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	biological process	IEA	7
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[10102273]	91
GO:0030330	DNA damage response, signal transduction by p53 class mediator	biological process	IEA	1
GO:0001047	core promoter binding	molecular function	ISS	8
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IMP[18787191]	62
GO:2000177	regulation of neural precursor cell proliferation	biological process	IEA	2
GO:0042593	glucose homeostasis	biological process	IEA	19
GO:0005737	cytoplasm	cellular component	IDA[10102273]	322
GO:0001542	ovulation from ovarian follicle	biological process	IEA	3
GO:0001547	antral ovarian follicle growth	biological process	IEA	2
GO:0001544	initiation of primordial ovarian follicle growth	biological process	IEA	1
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0031490	chromatin DNA binding	molecular function	ISS	7
GO:0019901	protein kinase binding	molecular function	IPI[16751106]	29
GO:0090090	negative regulation of canonical Wnt signaling pathway	biological process	IEA	9
GO:0001556	oocyte maturation	biological process	IEA	3

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05213	Endometrial cancer	10
hsa05223	Non-small cell lung cancer	8

Gene related BioCarta pathways (count: 4)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 4)

ID	Name	No. of Genes in BDgene
achPathway	Role of nicotinic acetylcholine receptors in the regulation of apoptosis	6
ptenPathway	PTEN dependent cell cycle arrest and apoptosis	3
aktPathway	AKT Signaling Pathway	6
longevityPathway	The IGF-1 Receptor and Longevity	6

Gene related interactors from protein-protein interactions data in HPRD (count: 12)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
FOXO3	YWHAG	NO	in vivo	15324660
FOXO3	FOXG1	NO	in vivo	15084259
FOXO3	NR1H2	NO	yeast 2-hybrid	15604093
FOXO3	CHUK	NO	in vitro;in vivo	15084260
FOXO3	IKBKB	NO	in vitro;in vivo	15084260
FOXO3	YWHAZ	NO	in vivo	10102273
FOXO3	EP300	NO	in vitro	11896584
FOXO3	SMAD2	NO	in vitro;in vivo	15084259
FOXO3	SGK1	NO	in vitro;in vivo	11154281
FOXO3	SMAD4	NO	in vitro;in vivo	15084259
FOXO3	NR1H3	NO	yeast 2-hybrid	15604093
FOXO3	SMAD3	NO	in vitro;in vivo	15084259

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1536057	chr6:108564420 - 108564420(1)	intron_variant	1(1/0/0)
rs1935952	chr6:108677702 - 108677702(1)	intron_variant	1(1/0/0)
rs2802292	chr6:108587315 - 108587315(1)	intron_variant	1(1/0/0)
rs3813498	chr6:108622962 - 108622962(1)	intron_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 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

Gene relationship with MDD

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Region: chr6:108559835..108684774 View in gBrowse