Gene Report

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Basic Info

Approved Symbol	NFIL3
Previous Symbol	IL3BP1
Symbol Alias	E4BP4, NFIL3A, NF-IL3A
Approved Name	nuclear factor, interleukin 3 regulated
Location	9q22
Position	chr9:91409045-91423862, -1
External Links	HGNC: 7787 Entrez Gene: 4783 Ensembl: ENSG00000165030 UCSC: uc004arh.3
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Byrne, E. M., 2014		P-value=0.19. Gene-based tests show no significant association between this gene and BD.	Negative	Comment on Study
Mansour, H. A.,2009		Gene-based tests:X<sup>2</sup>=3.129, P-value = 0.448 in dominant model, X<sup>2</sup>=2.497, P-value = 0.575 in additive model, X<sup>2</sup>=2.136, P-value = 0.699 in recessive model in BPI. No significant association was observed using neither single SNP-based analyses nor gene-based tests in BPI.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003677	DNA binding	molecular function	TAS[1620116]	83
GO:0005634	nucleus	cellular component	IEA	283
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	TAS[7565758]	66
GO:0003714	transcription corepressor activity	molecular function	TAS[1620116]	21

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	molecular function	IDA[20093779]	14
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	molecular function	IEA	9
GO:0007623	circadian rhythm	biological process	IEA	40
GO:0006366	transcription from RNA polymerase II promoter	biological process	IEA	31
GO:0006955	immune response	biological process	IEA	19
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IMP[20093779]	62
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0010628	positive regulation of gene expression	biological process	IEA	23
GO:0071353	cellular response to interleukin-4	biological process	IEA	4
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	molecular function	IDA[20093779]	10

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NFIL3	CREB3	NO	in vitro	12805554
NFIL3	DR1	NO	in vitro;in vivo	8836190

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

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)

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

Gene relationship with SZ

Reference	Description	Result Category
24687905	P-value=0.41. Gene-based tests show no significant association between this gene and SZ.	Negative
19839995	Gene-based tests:X<sup>2</sup>=4.24, P-value = 0.276 in dominant model in SZ/SZA, X<sup>2</sup>=3.605, P-value = 0.369 in recessive model in SZ/SZA, X<sup>2</sup>=3.128, P-value = 0.438 in additive model in SZ/SZA.No association was observed using neither single SNP-based analyses nor gene-based tests in SZ/SZA.	Negative

Reference	ID in SZGene	Result Category
19839995	883	Negative

Gene relationship with MDD

Reference	Description	Category in MDD
24687905	P-value=0.16. Gene-based tests show no significant association between this gene and MDD.	Negative

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Region: chr9:91409045..91423862 View in gBrowse