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	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	SPI1	NO	in vitro	10734131
IRF8	TRAF6	NO	in vivo	16484229
IRF8	ZBTB17	NO	in vivo;yeast 2-hybrid	12904288
IRF8	IRF1	NO	in vitro;in vivo	7768900 , 9742224
IRF8	SMURF2	NO	in vivo	15761153
IRF8	COPS2	NO	in vitro;in vivo	10991940

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

View in gBrowse

Region: chr16:85898803..85922609 View in gBrowse