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    IRF8 interferon regulatory factor 8 [ Homo sapiens (human) ]

    Gene ID: 3394, updated on 17-Jun-2024

    Summary

    Official Symbol
    IRF8provided by HGNC
    Official Full Name
    interferon regulatory factor 8provided by HGNC
    Primary source
    HGNC:HGNC:5358
    See related
    Ensembl:ENSG00000140968 MIM:601565; AllianceGenome:HGNC:5358
    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; IMD32A; IMD32B; 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]
    Expression
    Biased expression in lymph node (RPKM 108.4), spleen (RPKM 67.5) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IRF8 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (85899162..85922609)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (91965661..91989108)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (85932768..85956215)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene Neighboring gene ribosomal protein L10a pseudogene 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85855434-85855943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85894503-85895002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85917116-85917616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85948479-85949144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7829 Neighboring gene microRNA 6774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85969463-85969962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7830 Neighboring gene long intergenic non-protein coding RNA 2132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11301 Neighboring gene uncharacterized LOC105371388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11304

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Immunodeficiency 32B
    MedGen: C4016741 OMIM: 226990 GeneReviews: Not available
    Compare labs
    Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
    MedGen: C3808589 OMIM: 614893 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genetic variation associated with circulating monocyte count in the eMERGE Network.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analysis accounting for environmental factors through propensity-score matching: application to stressful live events in major depressive disorder.
    EBI GWAS Catalog
    Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.
    EBI GWAS Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
    EBI GWAS Catalog
    Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
    EBI GWAS Catalog
    Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to type II interferon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to protozoan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendritic cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in follicular B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in germinal center B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in myeloid cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in plasmacytoid dendritic cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-12 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of type II interferon production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of type I interferon production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    interferon regulatory factor 8
    Names
    interferon consensus sequence binding protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_294

    mRNA and Protein(s)

    1. NM_001363907.1NP_001350836.1  interferon regulatory factor 8 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC092723
      UniProtKB/TrEMBL
      B2R8V7
      Conserved Domains (2) summary
      pfam00605
      Location:19123
      IRF; Interferon regulatory factor transcription factor
      pfam10401
      Location:213391
      IRF-3; Interferon-regulatory factor 3
    2. NM_001363908.1NP_001350837.1  interferon regulatory factor 8 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC092723
      Consensus CDS
      CCDS86547.1
      UniProtKB/TrEMBL
      H3BPS5, H3BRT4
      Related
      ENSP00000456395.2, ENST00000569607.2
      Conserved Domains (1) summary
      pfam10401
      Location:1177
      IRF-3; Interferon-regulatory factor 3
    3. NM_002163.4NP_002154.1  interferon regulatory factor 8 isoform 2

      See identical proteins and their annotated locations for NP_002154.1

      Status: REVIEWED

      Source sequence(s)
      AA232881, AC092723, AI307662, BF110315, BG107396, BI835080, CB214983, M91196
      Consensus CDS
      CCDS10956.1
      UniProtKB/Swiss-Prot
      A0AV82, Q02556
      UniProtKB/TrEMBL
      B2R8V7
      Related
      ENSP00000268638.4, ENST00000268638.10
      Conserved Domains (2) summary
      pfam00605
      Location:9113
      IRF; Interferon regulatory factor transcription factor
      pfam10401
      Location:203381
      IRF-3; Interferon-regulatory factor 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      85899162..85922609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434052.1XP_047290008.1  interferon regulatory factor 8 isoform X1

      UniProtKB/TrEMBL
      B2R8V7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      91965661..91989108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)