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Aliases for IRF8 Gene

Aliases for IRF8 Gene

  • Interferon Regulatory Factor 8 2 3
  • ICSBP1 3 4 6
  • Interferon Consensus Sequence Binding Protein 1 2 3
  • H-ICSBP 3 4
  • ICSBP 3 4
  • IRF-8 3 4
  • Interferon Consensus Sequence-Binding Protein 4
  • IMD32A 3
  • IMD32B 3

External Ids for IRF8 Gene

Previous HGNC Symbols for IRF8 Gene

  • ICSBP1

Previous GeneCards Identifiers for IRF8 Gene

  • GC16P084491
  • GC16P085932
  • GC16P071673

Summaries for IRF8 Gene

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 immunodeficiency 32a, mycobacteriosis, autosomal dominant and immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive. Among its related pathways are Interferon Signaling and Interferon Signaling. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and regulatory region DNA binding. An important paralog of this gene is IRF3.

UniProtKB/Swiss-Prot for IRF8 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRF8 Gene

Genomics for IRF8 Gene

Regulatory Elements for IRF8 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IRF8 Gene

Start:
85,898,803 bp from pter
End:
85,922,609 bp from pter
Size:
23,807 bases
Orientation:
Plus strand

Genomic View for IRF8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IRF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRF8 Gene

Proteins for IRF8 Gene

  • Protein details for IRF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02556-IRF8_HUMAN
    Recommended name:
    Interferon regulatory factor 8
    Protein Accession:
    Q02556
    Secondary Accessions:
    • A0AV82

    Protein attributes for IRF8 Gene

    Size:
    426 amino acids
    Molecular mass:
    48356 Da
    Quaternary structure:
    • 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.

neXtProt entry for IRF8 Gene

Proteomics data for IRF8 Gene at MOPED

Post-translational modifications for IRF8 Gene

  • 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).
  • Ubiquitination at Lys240
  • Modification sites at PhosphoSitePlus

Other Protein References for IRF8 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for IRF8 (IRF8)

No data available for DME Specific Peptides for IRF8 Gene

Domains for IRF8 Gene

Suggested Antigen Peptide Sequences for IRF8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02556

UniProtKB/Swiss-Prot:

IRF8_HUMAN :
  • Q02556
Domain:
  • Contains 1 IRF tryptophan pentad repeat DNA-binding domain.
Family:
  • Belongs to the IRF family.
genes like me logo Genes that share domains with IRF8: view

No data available for Gene Families for IRF8 Gene

Function for IRF8 Gene

Molecular function for IRF8 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction: By IFNG/IFN-gamma. Negatively regulated by microRNA-155 (miR155).

Gene Ontology (GO) - Molecular Function for IRF8 Gene

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 21903422
genes like me logo Genes that share ontologies with IRF8: view
genes like me logo Genes that share phenotypes with IRF8: view

Animal Models for IRF8 Gene

MGI Knock Outs for IRF8:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for IRF8 Gene

Localization for IRF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRF8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IRF8 Gene COMPARTMENTS Subcellular localization image for IRF8 gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for IRF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IRF8: view

Pathways for IRF8 Gene

genes like me logo Genes that share pathways with IRF8: view

Pathways by source for IRF8 Gene

1 Qiagen pathway for IRF8 Gene
2 Cell Signaling Technology pathways for IRF8 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for IRF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS 1460054
GO:0006355 regulation of transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter TAS 1460054
GO:0006909 phagocytosis IEA --
GO:0006955 immune response TAS 8861914
genes like me logo Genes that share ontologies with IRF8: view

Compounds for IRF8 Gene

(5) Novoseek inferred chemical compound relationships for IRF8 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 26 17
retinoic acid 9.02 5
chloramphenicol 6.37 2
oligonucleotide 0 2
estrogen 0 2
genes like me logo Genes that share compounds with IRF8: view

Transcripts for IRF8 Gene

Unigene Clusters for IRF8 Gene

Interferon regulatory factor 8:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IRF8

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IRF8 Gene

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: -
SP6: - -
SP7:

Relevant External Links for IRF8 Gene

GeneLoc Exon Structure for
IRF8
ECgene alternative splicing isoforms for
IRF8

Expression for IRF8 Gene

mRNA expression in normal human tissues for IRF8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IRF8 Gene

This gene is overexpressed in Spleen (9.1), Whole Blood (5.1), and Small Intestine - Terminal Ileum (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for IRF8 Gene

SOURCE GeneReport for Unigene cluster for IRF8 Gene Hs.137427

mRNA Expression by UniProt/SwissProt for IRF8 Gene

Q02556-IRF8_HUMAN
Tissue specificity: Predominantly expressed in lymphoid tissues.
genes like me logo Genes that share expressions with IRF8: view

In Situ Assay Products

Orthologs for IRF8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IRF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IRF8 35
  • 99.37 (n)
  • 99.77 (a)
IRF8 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IRF8 35
  • 85.68 (n)
  • 90.14 (a)
IRF8 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IRF8 35
  • 89.75 (n)
  • 91.78 (a)
IRF8 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Irf8 35
  • 86.32 (n)
  • 90.09 (a)
Irf8 16
Irf8 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IRF8 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IRF8 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Irf8 35
  • 86.48 (n)
  • 88.92 (a)
chicken
(Gallus gallus)
Aves IRF8 35
  • 74.23 (n)
  • 74.23 (a)
IRF8 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IRF8 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia irf8 35
  • 65.37 (n)
  • 65.21 (a)
zebrafish
(Danio rerio)
Actinopterygii irf8 35
  • 61.66 (n)
  • 57.38 (a)
irf8 36
  • 56 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2487 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for IRF8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IRF8 Gene

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

Paralogs for IRF8 Gene

Paralogs for IRF8 Gene

Selected SIMAP similar genes for IRF8 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with IRF8: view

Variants for IRF8 Gene

Sequence variations from dbSNP and Humsavar for IRF8 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs6638 -- 85,922,438(+) GGCAG(A/T)CCTGT utr-variant-3-prime
rs16882 -- 85,901,967(-) TCCCC(A/G)AGACA intron-variant, upstream-variant-2KB
rs147968 -- 85,912,233(+) AAGAA(C/T)ACATG intron-variant
rs170033 -- 85,897,898(+) AAACA(A/G)TAGTT upstream-variant-2KB
rs172573 -- 85,909,818(+) TCTCA(A/G)AGCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IRF8 Gene

Variant ID Type Subtype PubMed ID
esv4262 CNV Complex 18987735
nsv833316 CNV Loss 17160897
nsv1914 CNV Insertion 18451855
nsv907121 CNV Loss 21882294
nsv9466 CNV Gain 18304495
nsv483044 CNV Gain 15286789

Relevant External Links for IRF8 Gene

HapMap Linkage Disequilibrium report
IRF8
Human Gene Mutation Database (HGMD)
IRF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRF8 Gene

Disorders for IRF8 Gene

(2) OMIM Diseases for IRF8 Gene (601565)

UniProtKB/Swiss-Prot

IRF8_HUMAN
  • Immunodeficiency 32A (IMD32A) [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. {ECO:0000269 PubMed:21524210}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Immunodeficiency 32B (IMD32B) [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. {ECO:0000269 PubMed:21524210}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for IRF8 Gene

(11) Novoseek inferred disease relationships for IRF8 Gene

Disease -log(P) Hits PubMed IDs
myeloid leukemia chronic 66 10
myeloproliferative disorders 58.2 4
leukemogenesis 48.9 3
blast crisis 45.9 2
leukemia 30.7 13

Relevant External Links for IRF8

Genetic Association Database (GAD)
IRF8
Human Genome Epidemiology (HuGE) Navigator
IRF8
genes like me logo Genes that share disorders with IRF8: view

Publications for IRF8 Gene

  1. Human interferon consensus sequence binding protein is a negative regulator of enhancer elements common to interferon-inducible genes. (PMID: 1460054) Weisz A. … Levi B.-Z. (J. Biol. Chem. 1992) 2 3 4 23
  2. Synergistic activation of interleukin-12 p35 gene transcription by interferon regulatory factor-1 and interferon consensus sequence-binding protein. (PMID: 15489234) Liu J. … Ma X. (J. Biol. Chem. 2004) 3 23
  3. Immunodeficiency and chronic myelogenous leukemia-like syndrome in mice with a targeted mutation of the ICSBP gene. (PMID: 8861914) Holtschke T. … Horak I. (Cell 1996) 3 23
  4. IRF-8/interferon (IFN) consensus sequence-binding protein is involved in Toll-like receptor (TLR) signaling and contributes to the cross-talk between TLR and IFN-gamma signaling pathways. (PMID: 16484229) Zhao J. … Xiong H. (J. Biol. Chem. 2006) 3 23
  5. Leukemia-associated, constitutively active mutants of SHP2 protein tyrosine phosphatase inhibit NF1 transcriptional activation by the interferon consensus sequence binding protein. (PMID: 16914719) Huang W. … Eklund E.A. (Mol. Cell. Biol. 2006) 3 23

Products for IRF8 Gene

Sources for IRF8 Gene

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