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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IRF8 Gene

protein-coding GIFtS: 61
GCID: GC16P085932

interferon regulatory factor 8

(Previous name: interferon consensus sequence binding protein 1 )
(Previous symbol: ICSBP1)

Explore 33 diseases affiliated with
IRF8 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Interferon Regulatory Factor 8¹ ²		Interferon Consensus Sequence Binding Protein 1¹ ²
ICSBP¹ ² ³		H-ICSBP² ³
ICSBP1¹ ² ³		Interferon Consensus Sequence-Binding Protein³
IRF-8¹ ² ³

External Ids:	HGNC: 5358¹	Entrez Gene: 3394²	Ensembl: ENSG00000140968⁷	OMIM: 601565⁵	UniProtKB: Q02556³

Export aliases for IRF8 gene to outside databases

Previous GC identifers: GC16P084491 GC16P071673

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IRF8:

Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory

factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region

and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the

IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha

and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced

by viral infection. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: IRF8_HUMAN, Q02556

Function: Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the

interferon consensus sequence (ICS)). Plays a negative regulatory role in cells of the immune system. Involved in

CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to

recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative

binding of BATF and IRF8 and activation of genes (By similarity)

Gene Wiki entry for IRF8

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IRF8 gene promoter:
C/EBPbeta HNF-1 COMP1 E4BP4 FOXO3b Evi-1 HNF-1A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): IRF8 promoter sequence

Search SABiosciences Chromatin IP Primers for IRF8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IRF8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.1 Ensembl cytogenetic band: 16q24.1 HGNC cytogenetic band: 16q24.1

IRF8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IRF8 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P085932: view genomic region (about GC identifiers)

Start:	85,932,409 bp from pter	End:	85,956,212 bp from pter
Size:	23,804 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IRF8_HUMAN, Q02556 (See protein sequence)

Recommended Name: Interferon regulatory factor 8

Size: 426 amino acids; 48356 Da

Subunit: Interacts (via C-terminus) with TRIM21 (via C-terminus). Interacts with the BATF-JUNB heterodimer. Interacts

with BATF (via bZIP domain); the interaction is direct (By similarity). Interacts with COPS2

Subcellular location: Nucleus

Secondary accessions: A0AV82

Explore the universe of human proteins at neXtProt for IRF8: NX_Q02556

Post-translational modifications:

Ubiquitinated. Ubiquitination by TRIM21 in macrophages, a process that is strongly increased upon interferon gamma

stimulation, leds to the enhanced transcriptional activity of target cytokine genes (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q02556

IRF8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002154.1

ENSEMBL proteins:

ENSP00000268638 ENSP00000455816 ENSP00000458047 ENSP00000455784 ENSP00000456992

ENSP00000455048 ENSP00000455760 ENSP00000455452 ENSP00000456395

Reactome Protein details: Q02556
Human Recombinant Protein Products:

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	Novus Biologicals IRF8 Proteins Novus Biologicals IRF8 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for IRF8

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005829	cytosol	TAS	--

IRF8 for ontologies About GeneDecksing

IRF8 Antibody Products:

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	Uscn ELISAs and CLIAs for IRF8

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IRF8 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom

IPR001346 Interferon_reg_fact_DNA-bd_dom

IPR008984 SMAD_FHA_domain

IPR019817 Interferon_reg_fac_CS

IPR017855 SMAD_dom-like

Graphical View of Domain Structure for InterPro Entry Q02556

ProtoNet protein and cluster: Q02556

1 Blocks protein family: IPB001346 Interferon regulatory factor

UniProtKB/Swiss-Prot: IRF8_HUMAN, Q02556

Similarity: Belongs to the IRF family

Similarity: Contains 1 IRF tryptophan pentad repeat DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: IRF8_HUMAN, Q02556

Function: Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the

interferon consensus sequence (ICS)). Plays a negative regulatory role in cells of the immune system. Involved in

CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to

recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative

binding of BATF and IRF8 and activation of genes (By similarity)

Induction: By IFNG/IFN-gamma

miRNA Products:		OriGene 3'-UTR Clone: IRF8 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IRF8
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate IRF8:
		hsa-miR-221* hsa-miR-1276 hsa-miR-186 hsa-miR-938 hsa-miR-664
		SwitchGear 3'UTR luciferase reporter plasmid: IRF8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IRF8 (see all 7) OriGene shRNA RFP: IRF8 OriGene siRNA: IRF8
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for IRF8

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for IRF8
		Search LifeMap BioReagents cell lines for IRF8

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF8

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000975	regulatory region DNA binding	IEA	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	--	--
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	TAS	1460054
GO:0005515	protein binding	IPI	--

IRF8 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for IRF8:

Synthetic lethal with c-Myc af

Animal Models:
Mouse knock-out Irf8^tm1Hor for IRF8
6 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Irf8):

cellular	hematopoietic system	immune system	liver/biliary system	mortality/aging
tumorigenesis

IRF8 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytokine Signaling in Immune system

Cytokine Signaling in Immune system

1.00

Interferon Signaling

0.61

Expression of IFN-induced genes

Expression of IFN-induced genes

1.00

Interferon alpha/beta signaling

0.61

Interferon gamma signaling

Interferon gamma signaling

1.00

Expression of IFNG-stimulated genes

0.72

Lymphocyte Signaling

Lymphocyte Signaling

1.00

Immune System

Immune System

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Cell Signaling Technology (CST) Pathways for IRF8

	Lymphocyte Signaling
	NF-kappaB Signaling

2 BioSystems Pathways for IRF8

	Type II interferon signaling (IFNG)
	Validated targets of C-MYC transcriptional repression

5/7 Reactome Pathways for IRF8 (see all 7)

	Interferon alpha/beta signaling
	Interferon gamma signaling
	Cytokine Signaling in Immune system
	Expression of IFN-induced genes
	Expression of IFNG-stimulated genes

1 Kegg Pathway (Kegg details for IRF8):

Pertussis

IRF8 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for IRF8

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/83 Interacting proteins for IRF8 (Q02556^{1, 3} ENSP00000268638⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 83)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IRF6	O14896¹^,³, ENSP00000355988⁴	EBI-2866563,EBI-6115643 I2D: score=1 STRING: ENSP00000355988
IRF2	P14316³, ENSP00000377218⁴	I2D: score=4 STRING: ENSP00000377218
SPI1	P17947³, ENSP00000227163⁴	I2D: score=4 STRING: ENSP00000227163
SQSTM1	Q13501³, ENSP00000374455⁴	I2D: score=2 STRING: ENSP00000374455
ZBTB17	Q13105³, ENSP00000364895⁴	I2D: score=2 STRING: ENSP00000364895

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	TAS	1460054
GO:0006909	phagocytosis	IEA	--
GO:0006955	immune response	TAS	8861914
GO:0009617	response to bacterium	--	--
GO:0019221	cytokine-mediated signaling pathway	TAS	--

IRF8 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IRF8 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IRF8
5 Novoseek chemical compound relationships for IRF8 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	26	23	18089853 (3), 16914719 (3), 9092512 (3), 11483597 (2) (see all 8)
retinoic acid	9.02	5	7678054 (3), 16918696 (1), 17934488 (1)
chloramphenicol	6.37	2	7678054 (2)
oligonucleotide	0	2	10438937 (1), 10975835 (1)
estrogen	0	2	15947094 (1), 12933588 (1)

Search CenterWatch for drugs/clinical trials and news about IRF8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IRF8 gene:

NM_002163.2

Unigene Cluster for IRF8:

Interferon regulatory factor 8

Hs.137427 [show with all ESTs]

Unigene Representative Sequence: NM_002163

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000268638(uc002fjh.3) ENST00000565552 ENST00000570088 ENST00000563180(uc002fji.3)

ENST00000564617 ENST00000564803 ENST00000564056 ENST00000566369 ENST00000569145

ENST00000562492 ENST00000569607

miRNA Products:		OriGene 3'-UTR Clone: IRF8 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IRF8
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate IRF8:
		hsa-miR-221* hsa-miR-1276 hsa-miR-186 hsa-miR-938 hsa-miR-664
		SwitchGear 3'UTR luciferase reporter plasmid: IRF8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: IRF8 (NM_002163)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IRF8
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IRF8

Additional cDNA sequence:

AK313524.1 BC126247.1 M91196.1

7 DOTS entries:

DT.91699997 DT.113537 DT.91699994 DT.95210951 DT.95360371 DT.100694587 DT.95369238

24/137 AceView cDNA sequences (see all 137):

BG107396 AW274867 CD369794 BE501367 BQ004341 AA232881 CD742774 AI378774

BX279832 AI657172 AI830152 AA514545 AI128238 AI627736 CA449822 CD365837

CR599608 AI378773 AI307662 BM917103 AW196272 CA306345 BI822720 AA922364

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for IRF8 (see all 7) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	·	7c	^	8a	·	8b	^	9a	·	9b	^	10	^	11a	·	11b
SP1:			-		-		-												-		-		-		-
SP2:																			-		-		-		-
SP3:							-
SP4:															-		-		-		-		-		-		-		-		-
SP5:																									-

ECgene alternative splicing isoforms for IRF8

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IRF8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

IRF8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Type1 Off Cone Bipolar Cells

Bipolar, Retina

Testis

Seminiferous Tubules

Sertoli cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See IRF8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IRF8

SOURCE GeneReport for Unigene cluster: Hs.137427

UniProtKB/Swiss-Prot: IRF8_HUMAN, Q02556

Tissue specificity: Predominantly expressed in lymphoid tissues

SABiosciences Expression via Pathway-Focused PCR Arrays including IRF8:

Antigen Presenting Cells in human mouse rat

Interferons & Receptors in human mouse rat

T Helper Cell Differentiation in human mouse rat

Hematopoiesis in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF8

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for IRF8 gene from 3/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	IRF8¹	interferon regulatory factor 8	73.92(n) 74.47(a)		396385 NM_205416.1 NP_990747.1
lizard (Anolis carolinensis)	Reptilia	IRF8⁶	--	70(a)	1 ↔ 1	GL343454.1(522573-536141)
zebrafish (Danio rerio)	Actinopterygii	irf8¹	interferon regulatory factor 8	61.27(n) 57(a)		436895 NM_001002622.1 NP_001002622.1

ENSEMBL Gene Tree for IRF8 (if available)
TreeFam Gene Tree for IRF8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for IRF8 gene

IRF9² IRF2² IRF5² IRF3² IRF1² IRF7² IRF6² IRF4²

8 SIMAP similar genes for IRF8 using alignment to 9 protein entries: IRF8_HUMAN (see all proteins):

IRF9 IRF5 IRF4 IRF2 IRF1 IRF3

IRF6 IRF7

IRF8 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75008589^1,2	C,F,	--	71672141(+)	`TTCCTA/GTATTC`	1	--	us2k¹		1		WA	118
rs79943866^1,2	F,	--	71672185(+)	`AACTTG/CAGGAT`	1	--	us2k¹		1		NA	120
rs111783494^1,2	F	--	71672303(+)	`TCTGAC/TGTCCT`	1	--	us2k¹		2		CSA	4
rs58574202^1,2	C,	--	71672439(+)	`TGTTGC/TGGAAC`	1	--	us2k¹		2		WA	120
rs79260634^1,2		--	71672744(+)	`AGCCAA/GTCGCG`	1	--	us2k¹		2		CSA WA	120
rs56177354^1,2	F,	--	71673558(+)	`CACTTC/TGAAGA`	1	--	us2k¹		1		NA	120
rs12325654^1,2	C,	--	71673636(+)	`CCCCCA/CACGAC`	1	--	us2k¹		0	--	--	--	--
rs79471324^1,2	C,F,	--	71674016(+)	`TGGAAA/GACGTT`	1	--	int¹		1		WA	118
rs74619664^1,2		--	71674080(+)	`CTATCA/GTCCCA`	1	--	int¹		0	--	--	--	--
rs305085^1,2	C,F,A,H,	--	71674149(+)	`AACCAG/ATCGTT`	1	--	int¹		10		NA NS EA WA	928

HapMap Linkage Disequilibrium report for IRF8 (85932409 - 85956212 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for IRF8
1 CNV: 0199
1 Indel: 33303
Human Gene Mutation Database (HGMD): IRF8

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IRF8 for disorders           About GeneDecksing

OMIM gene information: 601565    OMIM disorders: --

20/33 diseases for IRF8 (see all 33):    About MalaCards

myeloid leukemia myeloproliferative disorder b-cell lymphomas systemic lupus erythematosus

lupus erythematosus chronic lymphocytic leukemia multiple sclerosis acute myeloid leukemia

chronic myeloid leukemia lymphocytic leukemia kaposi's sarcoma plasmacytoma

wilms tumor leukemia multiple myeloma myelodysplastic syndrome

hepatitis c hepatitis b vaccinia myeloma

1 disease from the University of Copenhagen DISEASES database for IRF8:

Leukemia

10/11 Novoseek disease relationships for IRF8 gene (see all 11) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myeloid leukemia chronic	66	12	9414265 (1), 16780917 (1), 10430629 (1), 18195016 (1) (see all 10)
myeloproliferative disorders	58.2	5	19228926 (2), 10648600 (1), 19801548 (1)
leukemogenesis	48.9	4	16939812 (1), 9414265 (1), 14656881 (1)
blast crisis	45.9	2	10430629 (1), 19801548 (1)
leukemia	30.7	14	19228926 (3), 16939812 (2), 16780917 (2), 15935816 (1) (see all 9)
carcinoma embryonal	29.7	2	7678054 (1)
myeloid leukemia	24.2	2	9414265 (2)
tumors	16.6	29	16939812 (3), 10648600 (2), 16780917 (2), 18751977 (2) (see all 16)
lymphoma	15.7	8	16380510 (2), 16780917 (1), 11397479 (1), 17082608 (1)
virus infection	0	1	8552643 (1)

Human Genome Epidemiology (HuGE) Navigator: IRF8 (14 documents)

Export disorders for IRF8 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for IRF8 gene, integrated from 9 sources (see all 164):
(articles sorted by number of sources associating them with IRF8)

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world of online information

Human interferon consensus sequence binding protein is a negative regulator of enhancer elements common to interferon-inducible genes. (PubMed id 1460054)^{1, 2, 3, 9} Weisz A....Levi B.-Z. (1992)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A novel interferon regulatory factor (IRF), IRF-10, has a unique role in immune defense and is induced by the v-Rel oncoprotein. (PubMed id 11997525)^{1, 3} Nehyba J....Bose H.R. (2002)
Interaction between interferon consensus sequence-binding protein and COP9/signalosome subunit CSN2 (Trip15). A possible link between interferon regulatory factor signaling and the COP9/signalosome. (PubMed id 10991940)^{1, 2} Cohen H.... Levi B.Z. (2000)
Constitutive activation of SHP2 in mice cooperates with ICSBP deficiency to accelerate progression to acute myeloid leukemia. (PubMed id 18246201)^{1, 9} Konieczna I....Eklund E.A. (2008)
PU.1, interferon regulatory factor 1, and interferon consensus sequence-binding protein cooperate to increase gp91(phox) expression. (PubMed id 9593745)^{1, 9} Eklund E.A....Kakar R. (1998)
The interferon consensus sequence binding protein (IC SBP/IRF8) activates transcription of the FANCF gene during myeloid differentiat ion. (PubMed id 19801548)^{1, 9} Saberwal G....Eklund E.A. (2009)
Leukemia-associated, constitutively active mutants of SHP2 protein tyrosine phosphatase inhibit NF1 transcriptional activation by the interferon consensus sequence binding protein. (PubMed id 16914719)^{1, 9} Huang W....Eklund E.A. (2006)
The interferon consensus sequence-binding protein (ICSBP/IRF8) represses PTPN13 gene transcription in differentiating myeloid cells. (PubMed id 18195016)^{1, 9} Huang W....Eklund E.A. (2008)
Cutting edge: autoantigen Ro52 is an interferon inducible E3 ligase that ubiquitinates IRF-8 and enhances cytokine expression in macrophages. (PubMed id 17579016)^{1, 9} Kong H.J....Ozato K. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3394	HGNC: 5358	AceView: ICSBP1	Ensembl:ENSG00000140968	euGenes: HUgn3394
ECgene: IRF8	Kegg: 3394	H-InvDB: IRF8

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for IRF8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for IRF8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for IRF8 gene:
Search GeneIP for patents involving IRF8

GeneCards and IP:
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interferon regulatory factor 8

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