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	IRF8
Previous Symbol	ICSBP1
Symbol Alias	IRF-8, ICSBP
Approved Name	interferon regulatory factor 8
Previous Name	interferon consensus sequence binding protein 1
Location	16q24.1
Position	chr16:85898803-85922609, 1
External Links	HGNC: 5358 Entrez Gene: 3394 Ensembl: ENSG00000140968 UCSC: uc002fjh.3
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
Hattori, E.,2009	SNP: rs10514611	After the two-stage analysis, markers in this gene remained nominally significant (allelic P<0.05) with the same allele being consistently over-represented in both the first and the follow-up stages.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 20)

GO terms by PBA (count: 0)

GO terms by database search (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0042832	defense response to protozoan	biological process	IEA	3
GO:0060333	interferon-gamma-mediated signaling pathway	biological process	TAS	10
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	molecular function	TAS[1460054]	7
GO:0042742	defense response to bacterium	biological process	IEA	4
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0060337	type I interferon signaling pathway	biological process	TAS	7
GO:0030099	myeloid cell differentiation	biological process	IEA	1
GO:0019221	cytokine-mediated signaling pathway	biological process	TAS	23
GO:0032729	positive regulation of interferon-gamma production	biological process	IEA	7
GO:0005515	protein binding	molecular function	IPI[21903422]	563
GO:0000975	regulatory region DNA binding	molecular function	IEA	1
GO:0006909	phagocytosis	biological process	IEA	1
GO:0005829	cytosol	cellular component	TAS	223
GO:0006955	immune response	biological process	TAS[8861914]	19
GO:0006366	transcription from RNA polymerase II promoter	biological process	TAS[1460054]	31
GO:0044130	negative regulation of growth of symbiont in host	biological process	IEA	5
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	TAS[1460054]	62
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	biological process	IEA	1
GO:0032735	positive regulation of interleukin-12 production	biological process	IEA	5
GO:0071222	cellular response to lipopolysaccharide	biological process	IEA	12

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
IRF8	SMURF2	NO	in vivo	15761153
IRF8	IRF1	NO	in vitro;in vivo	7768900 , 9742224
IRF8	COPS2	NO	in vitro;in vivo	10991940
IRF8	SPI1	NO	in vitro	10734131
IRF8	ZBTB17	NO	in vivo;yeast 2-hybrid	12904288
IRF8	TRAF6	NO	in vivo	16484229

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10514611	chr16:85921636 - 85921636(1)	3_prime_UTR_variant; downstream_gene_variant	1(1/0/0)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs11644411	chr16:85926625 - 85926625(1)	downstream_gene_variant
rs11648480	chr16:85926673 - 85926673(1)	downstream_gene_variant
rs925994	chr16:85912411 - 85912411(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16q24.1	chr16:84100000-87000000	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: chr16:85898803..85922609 View in gBrowse