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Aliases for IRF8 Gene

Aliases for IRF8 Gene

  • Interferon Regulatory Factor 8 2 3 5
  • Interferon Consensus Sequence Binding Protein 1 2 3
  • H-ICSBP 3 4
  • ICSBP1 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 32b, monocyte and dendritic cell deficiency, autosomal recessive and immunodeficiency 32a, mycobacteriosis, autosomal dominant. Among its related pathways are Immune System and Interferon gamma signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Genomic Location for IRF8 Gene

Chromosome:
16
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

Genes around IRF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 240
  • Modification sites at PhosphoSitePlus

Antibody Products

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

No data available for DME Specific Peptides for IRF8 Gene

Domains & Families 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 :
  • Contains 1 IRF tryptophan pentad repeat DNA-binding domain.
  • Belongs to the IRF family.
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:0005515 protein binding IEA,IPI 21903422
genes like me logo Genes that share ontologies with IRF8: view
genes like me logo Genes that share phenotypes with IRF8: view

Human Phenotype Ontology for IRF8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IRF8 Gene

MGI Knock Outs for IRF8:

Animal Model Products

miRNA for IRF8 Gene

miRTarBase miRNAs that target IRF8
Targeted motifs for IRF8 Gene
HOMER Transcription Factor Regulatory Elements motif IRF8
  • Consensus sequence: GGAAGTGAAAST Submotif: canonical Cell Type: pDC GEO ID: GSE66899

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets 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
cytosol 5
nucleus 5
extracellular 2
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for IRF8 Gene

Pathways & Interactions for IRF8 Gene

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

Pathways by source for IRF8 Gene

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006909 phagocytosis IEA --
GO:0006955 immune response IEA,TAS 8861914
genes like me logo Genes that share ontologies with IRF8: view

No data available for SIGNOR curated interactions for IRF8 Gene

Drugs & Compounds for IRF8 Gene

(3) Drugs for IRF8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for IRF8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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 (x9.1), Whole Blood (x5.1), and Small Intestine - Terminal Ileum (x4.3).

Protein differential expression in normal tissues from HIPED for IRF8 Gene

This gene is overexpressed in Blymphocyte (25.3), Peripheral blood mononuclear cells (13.8), Lymph node (10.8), and Monocytes (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with IRF8: view

Protein tissue co-expression partners for IRF8 Gene

- Elite partner

Primer Products

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 36
  • 90 (a)
OneToOne
IRF8 35
  • 85.68 (n)
  • 90.14 (a)
dog
(Canis familiaris)
Mammalia IRF8 35
  • 89.75 (n)
  • 91.78 (a)
IRF8 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Irf8 16
Irf8 35
  • 86.32 (n)
  • 90.09 (a)
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 36
  • 56 (a)
OneToOne
irf8 35
  • 61.66 (n)
  • 57.38 (a)
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

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
VAR_036490 A breast cancer sample
VAR_036491 A breast cancer sample
VAR_070084 Immunodeficiency 32A (IMD32A)
VAR_070085 Immunodeficiency 32B (IMD32B)
rs170033 -- 85,897,898(+) AAACA(A/G)TAGTT upstream-variant-2KB

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

Variation tolerance for IRF8 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.21% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(8) MalaCards diseases for IRF8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IRF8 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for IRF8

Genetic Association Database (GAD)
IRF8
Human Genome Epidemiology (HuGE) Navigator
IRF8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IRF8
genes like me logo Genes that share disorders with IRF8: view

No data available for Genatlas for IRF8 Gene

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 67
  2. The interferon consensus sequence binding protein (ICSBP/IRF8) activates transcription of the FANCF gene during myeloid differentiation. (PMID: 19801548) Saberwal G. … Eklund E.A. (J. Biol. Chem. 2009) 3 23
  3. The interferon consensus sequence-binding protein (ICSBP/IRF8) represses PTPN13 gene transcription in differentiating myeloid cells. (PMID: 18195016) Huang W. … Eklund E.A. (J. Biol. Chem. 2008) 3 23
  4. Constitutive activation of SHP2 in mice cooperates with ICSBP deficiency to accelerate progression to acute myeloid leukemia. (PMID: 18246201) Konieczna I. … Eklund E.A. (J. Clin. Invest. 2008) 3 23
  5. Leishmania major infection activates NF-kappaB and interferon regulatory factors 1 and 8 in human dendritic cells. (PMID: 18316378) Jayakumar A. … McDowell M.A. (Infect. Immun. 2008) 3 23

Products for IRF8 Gene

Sources for IRF8 Gene

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