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    IRF8 interferon regulatory factor 8 [ Homo sapiens ]

    Gene ID: 3394, updated on 11-May-2012
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    Summary

    Official Symbol
    IRF8provided by HGNC
    Official Full Name
    interferon regulatory factor 8provided by HGNC
    Primary source
    HGNC:5358
    See related
    Ensembl:ENSG00000140968; HPRD:03336; MIM:601565; Vega:OTTHUMG00000137648
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ICSBP; IRF-8; ICSBP1; H-ICSBP
    Summary
    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]
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    Genomic context

    Location :
    16q24.1
    Sequence :
    Chromosome: 16; NC_000016.9 (85932774..85956212)
    See IRF8 in Epigenomics, MapViewer

    Chromosome 16 - NC_000016.9Genomic Context describing neighboring genes Neighboring gene iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene Neighboring gene ribosomal protein L10a pseudogene 12 Neighboring gene uncharacterized LOC100506542 Neighboring gene uncharacterized LOC146513

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. The leukemia-associated fusion protein Tel-platelet-derived growth factor receptor β (Tel-PdgfRβ) inhibits transcriptional repression of PTPN13 gene by interferon consensus sequence binding protein (Icsbp). Huang W, et al. J Biol Chem, 2012 Mar 9. PMID 22262849.
    2. IRF8 governs expression of genes involved in innate and adaptive immunity in human and mouse germinal center B cells. Shin DM, et al. PLoS One, 2011. PMID 22096565.
    3. Feedback inhibition of osteoclastogenesis during inflammation by IL-10, M-CSF receptor shedding, and induction of IRF8. Ivashkiv LB, et al. Ann N Y Acad Sci, 2011 Nov. PMID 22082370.
    4. Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. Cunninghame Graham DS, et al. PLoS Genet, 2011 Oct. PMID 22046141.
    5. Shared and distinct functions of the transcription factors IRF4 and IRF8 in myeloid cell development. Yamamoto M, et al. PLoS One, 2011. PMID 22003407.

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. interaction between Tel and Tel-PdgfRbeta decreases Tel/Icsbp/Hdac3 binding to the PTPN13 cis element, resulting in increased transcription.
      Title: The leukemia-associated fusion protein Tel-platelet-derived growth factor receptor β (Tel-PdgfRβ) inhibits transcriptional repression of PTPN13 gene by interferon consensus sequence binding protein (Icsbp).
    2. Data showed that IRF8 target genes contributes to multiple aspects of the biology of mature B cells including critical components of the molecular crosstalk among GC B cells, T follicular helper cells, and follicular dendritic cells.
      Title: IRF8 governs expression of genes involved in innate and adaptive immunity in human and mouse germinal center B cells.
    3. Association analysis identified five SLE susceptibility genes reaching genome-wide levels of significance : NCF2 ,IKZF1 ,IRF8 ,IFIH1 , and TYK2
      Title: Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.
    4. IRF4 has activities similar to IRF8 in regulating myeloid cell development
      Title: Shared and distinct functions of the transcription factors IRF4 and IRF8 in myeloid cell development.
    5. [review] Induction of transcriptional repressors such as IRF8 is one of the mechanisms that inhibits osteoclastogenesis.
      Title: Feedback inhibition of osteoclastogenesis during inflammation by IL-10, M-CSF receptor shedding, and induction of IRF8.
    6. study identifies a novel role for ICSBP in regulating cell growth via TGF-beta receptor upregulation and subsequent activation of the TGF-beta receptor/TAK-1/p38 pathway
      Title: Interferon consensus sequence binding protein-induced cell proliferation is mediated by TGF-β signaling and p38 MAPK activation.
    7. The promoter was methylated in many MDS or AML patients. This may be the main mechanism of ICSBP inactivation in myeloid malignancies & may be functionally important for accumulation of chromosome aberrations during leukemic progression.
      Title: ICSBP promoter methylation in myelodysplastic syndromes and acute myeloid leukaemia.
    8. association of single nucleotide polymorphisms to multiple sclerosis
      Title: The genetic association of variants in CD6, TNFRSF1A and IRF8 to multiple sclerosis: a multicenter case-control study.
    9. We detected two distinct disease-causing mutations affecting interferon regulatory factor 8 (IRF8). Both mutations impair IRF8 transcriptional activity.
      Title: IRF8 mutations and human dendritic-cell immunodeficiency.
    10. Findings determine the mechanism of IRF8 downregulation in CML cells.
      Title: IRF8 regulates acid ceramidase expression to mediate apoptosis and suppresses myelogeneous leukemia.
    Submit: New GeneRIF Correction See all (45)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk.

    Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.

    Genome-wide meta-analysis for severe diabetic retinopathy.

    Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q02556 P61201 COPS2    HPRD  PubMed  
    Q02556 P10914 IRF1    HPRD  PubMed  
    Q02556 P14316 IRF2    HPRD  PubMed  
    Q02556 Q9HAU4 SMURF2    HPRD  PubMed  
    Q02556 P17947 SPI1    HPRD  PubMed  
    Q02556 Q9Y4K3 TRAF6    HPRD  PubMed  
    Q02556 Q13105 ZBTB17    HPRD  PubMed  
    BioGRID:109621 BioGRID:107315 CBL    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109621 BioGRID:107454 CDK4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109621 BioGRID:114729 COPS2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109621 BioGRID:119324 COPS4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109621 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109621 BioGRID:116176 COPS6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109621 BioGRID:108421 ETV6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109621 BioGRID:109131 GPS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109621 BioGRID:109867 IRF1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109621 BioGRID:109868 IRF2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109621 BioGRID:109872 IRF6    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:109621 BioGRID:109621 IRF8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109621 BioGRID:110427 MID1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109621 BioGRID:110857 NFKB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109621 BioGRID:111902 RELA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109621 BioGRID:114397 SQSTM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109621 BioGRID:113041 TRAF6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109621 BioGRID:112615 TRIM21    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:109621 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
      Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
    • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
      Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
    • Pertussis, organism-specific biosystem (from KEGG)
      Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Pertussis, conserved biosystem (from KEGG)
      Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Type II interferon signaling (IFNG), organism-specific biosystem (from WikiPathways)
      Type II interferon signaling (IFNG), organism-specific biosystemAdapted from Raza et al. (2008). This pathway is initiated by IFNG binding to its receptor and a subsequent phosphorylation cascade involving a number of the JAK and STAT family of proteins. Several ...
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    regulatory region DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    sequence-specific distal enhancer binding RNA polymerase II transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    defense response to protozoan IEA
    Inferred from Electronic Annotation
    more info
    		  
    immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    myeloid cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of growth of symbiont in host IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    		 PubMed 
    phagocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of interleukin-12 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    type I interferon-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    interferon regulatory factor 8
    Names
    interferon regulatory factor 8
    interferon consensus sequence binding protein 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029333.1 RefSeqGene

      Range
      5001..28439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002163.2 → NP_002154.1  interferon regulatory factor 8

      Status: REVIEWED

      Source sequence(s)
      AA232881, AI307662, BF110315, BG107396, BI835080, CB214983, M91196
      Consensus CDS
      CCDS10956.1
      UniProtKB/Swiss-Prot
      Q02556
      Related
      ENSP00000268638, OTTHUMP00000175003, ENST00000268638, OTTHUMT00000269100
      Conserved Domains (2) summary
      cd00103
      Location:7 – 114
      Blast Score: 388
      IRF; Interferon Regulatory Factor (IRF); also known as tryptophan pentad repeat. The family of IRF transcription factors is important in the regulation of interferons in response to infection by virus and in the regulation of interferon-inducible genes. The ...
      pfam10401
      Location:202 – 381
      Blast Score: 601
      IRF-3; Interferon-regulatory factor 3

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p5 Primary Assembly

      Range
      85932774..85956212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

      Range
      71673680..71697160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC092723.3 (148813..172251) None
    genomic CH471114.2 EAW95435.1
    mRNA AA232881.1 None
    mRNA AI307662.1 None
    mRNA AK313524.1 BAG36304.1
    mRNA BC126247.1 AAI26248.1
    mRNA BF110315.1 None
    mRNA BG107396.1 None
    mRNA BI835080.1 None
    mRNA CB214983.1 None
    mRNA M91196.1 AAB63813.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02556.2 GenPept UniProtKB/Swiss-Prot:Q02556
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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