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IRF8 Gene

protein-coding   GIFtS: 63
GCID: GC16P085932

Interferon Regulatory Factor 8

(Previous name: interferon consensus sequence binding protein 1)
(Previous symbol: ICSBP1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interferon Regulatory Factor 81 2     ICSBP2 3
ICSBP11 2 3 5     IRF-82 3
Interferon Consensus Sequence Binding Protein 11 2     Interferon Consensus Sequence-Binding Protein3
H-ICSBP2 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IRF8 Gene:
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)

GeneCards Summary for IRF8 Gene:
IRF8 (interferon regulatory factor 8) is a protein-coding gene. Diseases associated with IRF8 include monocyte and dendritic cell deficiency, recessive, and cd11c+/cd1c+ dendritic cell deficiency, dominant. GO annotations related to this gene include regulatory region DNA binding and RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity. An important paralog of this gene is IRF9.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for IRF8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
85,956,215 bp from pter
Size:
23,807 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
Secondary accessions: A0AV82

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

Explore proteomics data for IRF8 at MOPED

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
  • Ubiquitination2 at Lys240
  • Modification sites at PhosphoSitePlus

  • See IRF8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002154.1  
    ENSEMBL proteins: 
     ENSP00000268638   ENSP00000455816   ENSP00000458047   ENSP00000455784   ENSP00000456992  
     ENSP00000455048   ENSP00000455760   ENSP00000455452   ENSP00000456395  
    Reactome Protein details: Q02556

    IRF8 Human Recombinant Protein Products:

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    Novus Biologicals IRF8 Proteins
    Novus Biologicals IRF8 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for IRF8

    IRF8 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of IRF8
    R&D Systems Antibodies for IRF8
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    Abcam antibodies for IRF8
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    ThermoFisher Antibodies for IRF8
    LSBio Antibodies in human, mouse, rat for IRF8

    IRF8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for IRF8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for IRF8
    Cloud-Clone Corp. CLIAs for IRF8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR001346 Interferon_reg_fact_DNA-bd_dom
     IPR008984 SMAD_FHA_domain
     IPR019817 Interferon_reg_fac_CS
     IPR019471 Interferon_reg_factor-3
     IPR011991 WHTH_DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q02556

    ProtoNet protein and cluster: Q02556

    1 Blocks protein domain: 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


    IRF8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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. Negatively regulated by microRNA-155 (miR155)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000975regulatory region DNA binding IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity TAS1460054
    GO:0005515protein binding IPI--
         
    IRF8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IRF8:
     Synthetic lethal with c-Myc af 

         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Irf8):
     hematopoietic system  immune system  liver/biliary system  mortality/aging  no phenotypic analysis 
     tumorigenesis 

    IRF8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for IRF8: Irf8tm1Hor Irf8tm1.2Hm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IRF8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IRF8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IRF8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IRF8

    miRNA
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    5 qRT-PCR 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 plasmidIRF8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IRF8
    Predesigned siRNA for gene silencing in human, mouse, rat IRF8

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for IRF8

    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IRF8 (NM_002163)
    Sino Biological Human cDNA Clone for IRF8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IRF8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IRF8

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IRF8_HUMAN, Q02556: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005829cytosol TAS--

    IRF8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for IRF8 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    2Immune response IFN alpha beta signaling pathway
    Interferon alpha/beta signaling0.43
    3Validated targets of C-MYC transcriptional repression
    Validated targets of C-MYC transcriptional repression
    4Type II interferon signaling (IFNG)
    Type II interferon signaling (IFNG)
    5Pertussis
    Pertussis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for IRF8
        Toll-Like Receptors Pathway

    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


    2 Reactome Pathways for IRF8
        Interferon alpha/beta signaling
    Interferon gamma signaling


    1 Kegg Pathway  (Kegg details for IRF8):
        Pertussis


    IRF8 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for IRF8

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

    Selected Interacting proteins for IRF8 (Q025561, 3 ENSP000002686384) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IRF6O148961, 3, ENSP000003559884EBI-2866563,EBI-6115643 I2D: score=1 STRING: ENSP00000355988
    IRF2P143163, ENSP000003772184I2D: score=4 STRING: ENSP00000377218
    SPI1P179473, ENSP000002271634I2D: score=4 STRING: ENSP00000227163
    SQSTM1Q135013, ENSP000003744554I2D: score=2 STRING: ENSP00000374455
    ZBTB17Q131053, ENSP000003648954I2D: score=2 STRING: ENSP00000364895
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS1460054
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS1460054
    GO:0006909phagocytosis IEA--
    GO:0006955immune response TAS8861914

    IRF8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IRF8

    5 Novoseek inferred 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)



    IRF8 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    5 qRT-PCR 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 plasmidIRF8 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: IRF8 (NM_002163)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat IRF8
      QuantiFast Probe-based Assays in human, mouse, rat IRF8

    Additional mRNA sequence: 

    AK313524.1 BC126247.1 M91196.1 

    7 DOTS entries:

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

    Selected AceView cDNA sequences (see all 137):

    AA922364 BE501367 AI378773 AI307662 BG107396 CA449822 AW274867 CA306345 
    BQ004341 AI340124 CR599608 CD742774 BX279832 AA232881 AI128238 BM917103 
    CD365837 AI378774 BI822720 AA514545 CD369794 AI830152 AI627736 AI657172 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IRF8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IRF8 Expression
    About this image


    IRF8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
    IRF8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IRF8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.137427

    UniProtKB/Swiss-Prot: IRF8_HUMAN, Q02556
    Tissue specificity: Predominantly expressed in lymphoid tissues

        Pathway & Disease-focused RT2 Profiler 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

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat IRF8
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IRF8 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Irf81 , 5 interferon regulatory factor 81, 5 86.32(n)1
    90.09(a)1
      8 (70.05 cM)5
    159001  NM_008320.31  NP_032346.11 
     1207363585 
    chicken
    (Gallus gallus)
    Aves IRF81 interferon regulatory factor 8 74.23(n)
    74.23(a)
      396385  NM_205416.1  NP_990747.1 
    lizard
    (Anolis carolinensis)
    Reptilia IRF86
    interferon regulatory factor 8
    70(a)
    1 ↔ 1
    GL343454.1(520327-536141)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia irf81 interferon regulatory factor 8 65.37(n)
    65.21(a)
      100496217  XM_004913607.1  XP_004913664.1 
    zebrafish
    (Danio rerio)
    Actinopterygii irf81 interferon regulatory factor 8 61.66(n)
    57.38(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)
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    Paralogs for IRF8 gene
    IRF92  IRF22  IRF52  IRF32  IRF12  IRF62  IRF42  IRF72  
    8 SIMAP similar genes for IRF8 using alignment to 9 protein entries:     IRF8_HUMAN (see all proteins):
    IRF9    IRF5    IRF1    IRF4    IRF2    IRF3
    IRF6    IRF7

    IRF8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IRF8 (see all 747)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364914
    A breast cancer sample4--see VAR_0364912 A T mis40--------
    VAR_0700844
    IRF8 deficiency, autosomal dominant (IRF8DD)4--see VAR_0700842 T A mis40--------
    VAR_0700854
    IRF8 deficiency, autosomal recessive (IRF8DR)4--see VAR_0700852 K E mis40--------
    VAR_0364904
    A breast cancer sample4--see VAR_0364902 R K mis40--------
    rs1157597801,2
    C,F--71673505(+) ACCCCA/CCTGCC 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs106042241,2
    C--71694810(+) ttttt-/T/TT  
            
    ttttt
    1 -- int12NA 4
    rs349931781,2
    C,F--85934515(+) CAAAAT/-TTTTG 1 -- int13Minor allele frequency- -:0.33NA CSA 6
    rs790954301,2
    C--85936382(+) GCAGGT/GGGCTG 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs112680251,2
    C--85936392(+) CAGGT-/GGCTGCAGG
    T
    /TGGCTGCAGG
    TTCCC
    1 -- int12NA CSA 4
    rs1132692541,2
    C--85948723(+) CTCAGGAGCCCT 
    GGTCAC
    /-
    GTAGC
    1 -- int11Minor allele frequency- -:0.00CSA 2

    HapMap Linkage Disequilibrium report for IRF8 (85932409 - 85956215 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for IRF8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1914CNV Insertion18451855
    nsv907121CNV Loss21882294
    nsv833316CNV Loss17160897
    nsv483044CNV Gain15286789
    nsv9466CNV Gain18304495
    esv4262CNV Complex18987735

    Human Gene Mutation Database (HGMD): IRF8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IRF8
    DNA2.0 Custom Variant and Variant Library Synthesis for IRF8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601565   
    OMIM disorders: 614894  614893  
    UniProtKB/Swiss-Prot: IRF8_HUMAN, Q02556
  • IRF8 deficiency, autosomal dominant (IRF8DD) [MIM:614893]: An immunologic disorder characterized by
    abnormal peripheral blood myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic cells, resulting
    in selective susceptibility to mycobacterial infections. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • IRF8 deficiency, autosomal recessive (IRF8DR) [MIM:614894]: A life-threatening pediatric disease
    characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe
    opportunistic infections, including disseminated BCG infection and oral candidiasis. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for IRF8 (see all 47):    
    About MalaCards
    monocyte and dendritic cell deficiency, recessive    cd11c+/cd1c+ dendritic cell deficiency, dominant    myeloproliferative disorder    pertussis
    plasmacytoma    vaccinia    myeloid leukemia    chronic myeloid leukemia
    wilms tumor    kaposi's sarcoma    multiple myeloma    acute myeloid leukemia
    myelodysplastic syndromes    nasopharyngitis    diabetic retinopathy    primary biliary cirrhosis
    multiple sclerosis    blindness    myeloma    chronic lymphocytic leukemia

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

    IRF8 for disorders           About GeneDecksing

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): IRF8
    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)
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    PubMed articles for IRF8 gene, integrated from 10 sources (see all 184):
    (articles sorted by number of sources associating them with IRF8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (J. Biol. Chem. 1992)
    2. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. (PubMed id 22446963)1, 4 Okada Y....Yamamoto K. (Nat. Genet. 2012)
    3. IRF8 mutations and human dendritic-cell immunodeficiency. (PubMed id 21524210)1, 2 Hambleton S....Gros P. (N. Engl. J. Med. 2011)
    4. Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL. (PubMed id 21131588)1, 4 Slager S.L....Cerhan J.R. (Blood 2011)
    5. Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. (PubMed id 21779181)1, 4 Gorlova O....Martin J. (PLoS Genet. 2011)
    6. Hepatitis B viraemia: its heritability and association with common genetic variation in the interferon gamma signalling pathway. (PubMed id 20980339)1, 4 Huang H.H....Yu M.W. (Gut 2011)
    7. Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain. (PubMed id 20430450)1, 4 Swaminathan B....Vandenbroeck K. (J. Neuroimmunol. 2010)
    8. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    9. Multiple sclerosis susceptibility alleles in African Americans. (PubMed id 19865102)1, 4 Johnson B.A....Oksenberg J.R. (Genes Immun. 2010)
    10. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. (PubMed id 20062064)1, 4 Crowther-Swanepoel D....Houlston R.S. (Nat. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 3394 HGNC: 5358 AceView: ICSBP1 Ensembl:ENSG00000140968 euGenes: HUgn3394
    ECgene: IRF8 Kegg: 3394 H-InvDB: IRF8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IRF8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IRF8 gene:
    Search GeneIP for patents involving IRF8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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