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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 32A and Immunodeficiency 32B. Among its related pathways are Cytokine Signaling in Immune system and Innate Immune System. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity. An important paralog of this gene is IRF4.

UniProtKB/Swiss-Prot for IRF8 Gene

  • Plays a role as a transcriptional activator or repressor (PubMed:25122610). 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

Additional gene information for IRF8 Gene

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

Genomics for IRF8 Gene

GeneHancer (GH) Regulatory Elements for IRF8 Gene

Promoters and enhancers for IRF8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I085898 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563.7 +9.1 9052 19.1 HDGF PKNOX1 SMAD1 ARID4B IRF4 YY1 ZNF213 ZNF143 FOS SP3 IRF8 COX4I1 EMC8 KIAA0513 MIR6774
GH16I085934 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 27.2 +37.4 37420 2.9 PKNOX1 SMAD1 RB1 BATF KLF5 IRF4 ZNF143 ZNF207 ATF7 ETV6 LINC02132 IRF8 COX4I1 EMC8 ENSG00000270124 LOC105371388 PIR52537
GH16I085923 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +25.4 25378 2.3 JUND RXRA POLR2A SMAD5 NFATC1 ZBED1 FOS BCLAF1 NR2F2 LOC105371388 IRF8 COX4I1 EMC8 MIR6774
GH16I085931 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 19.4 +33.1 33112 0.4 ZBTB33 IRF8 COX4I1 EMC8 LINC02132 LOC105371388
GH16I085994 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.8 +96.9 96910 2.1 PKNOX1 EBF1 BATF E2F1 ZFHX2 POLR2A ZNF366 FOXK2 NFATC1 ZNF143 IRF8 COX4I1 EMC8 ENSG00000269667 GC16M086019
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IRF8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IRF8 gene promoter:

Genomic Locations for IRF8 Gene

Genomic Locations for IRF8 Gene
chr16:85,898,803-85,922,609
(GRCh38/hg38)
Size:
23,807 bases
Orientation:
Plus strand
chr16:85,932,409-85,956,215
(GRCh37/hg19)

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

Post-translational modifications for IRF8 Gene

  • Sumoylated with SUMO3. Desumoylated by SENP1.
  • Ubiquitinated (PubMed:25122610). 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 leads to its degradation by the proteasome (PubMed:25122610).
  • Ubiquitination at isoforms=240
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IRF8 Gene

Domains & Families for IRF8 Gene

Gene Families for IRF8 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

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 :
  • Belongs to the IRF family.
Family:
  • Belongs to the IRF family.
genes like me logo Genes that share domains with IRF8: view

Function for IRF8 Gene

Molecular function for IRF8 Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a transcriptional activator or repressor (PubMed:25122610). 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).

Phenotypes From GWAS Catalog for IRF8 Gene

Gene Ontology (GO) - Molecular Function for IRF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 1460054
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 1460054
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
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:

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

Clone Products

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

Nucleus. Cytoplasm. Note=In resting macrophages, localizes in the cytoplasm. Translocated in the nucleus upon IFN-gamma induction. {ECO:0000269 PubMed:25122610}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRF8 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IRF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 25122610
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 25122610
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IRF8: view

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 by RNA polymerase II IDA 1460054
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006909 phagocytosis IEA --
GO:0006955 immune response TAS,IEA 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for IRF8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IRF8 Gene:

IRF8

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.

Evidence on tissue expression from TISSUES for IRF8 Gene

  • Blood(4.6)
  • Nervous system(4.4)
  • Lung(4.3)
  • Spleen(3.7)
  • Lymph node(3.4)
  • Bone marrow(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IRF8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • lymphatic
  • nervous
Regions:
Head and neck:
  • brain
  • head
General:
  • lymph node
genes like me logo Genes that share expression patterns with IRF8: view

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 33 34
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia IRF8 33 34
  • 89.75 (n)
rat
(Rattus norvegicus)
Mammalia Irf8 33
  • 86.48 (n)
mouse
(Mus musculus)
Mammalia Irf8 33 16 34
  • 86.32 (n)
cow
(Bos Taurus)
Mammalia IRF8 33 34
  • 85.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IRF8 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IRF8 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves IRF8 33 34
  • 74.23 (n)
lizard
(Anolis carolinensis)
Reptilia IRF8 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia irf8 33
  • 65.37 (n)
zebrafish
(Danio rerio)
Actinopterygii irf8 33 34
  • 61.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2487 33
Species where no ortholog for IRF8 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs11545564 benign, Immunodeficiency 32a, Immunodeficiency 32b 85,909,115(+) A/G 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs144424711 uncertain-significance, Immunodeficiency 32a, Immunodeficiency 32b 85,918,417(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs147057451 benign, Immunodeficiency 32a, Immunodeficiency 32b 85,921,276(+) C/G/T coding_sequence_variant, synonymous_variant
rs16939941 benign, Immunodeficiency 32a, Immunodeficiency 32b 85,911,598(+) C/T 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs16939945 benign, Immunodeficiency 32a, Immunodeficiency 32b 85,911,643(+) C/T 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv4262 OTHER complex 18987735
nsv1065036 CNV gain 25217958
nsv1914 CNV insertion 18451855
nsv483044 CNV gain 15286789
nsv833316 CNV loss 17160897
nsv9466 CNV gain 18304495

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)

Additional Variant Information for IRF8 Gene

Human Gene Mutation Database (HGMD)
IRF8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRF8

SNP Genotyping and Copy Number Assay Products

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

Disorders for IRF8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
immunodeficiency 32a
  • imd32a
immunodeficiency 32b
  • imd32b
leukemia, chronic myeloid
  • cml
oral candidiasis
  • candidiasis of mouth
bone marrow cancer
  • bone marrow neoplasm
- 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, ECO:0000269 PubMed:25122610}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IRF8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 BZ (The Journal of biological chemistry 1992) 2 3 4 22 58
  2. Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. (PMID: 25122610) Salem S … Gros P (Blood 2014) 3 4 58
  3. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. (PMID: 22446963) Okada Y … Yamamoto K (Nature genetics 2012) 3 44 58
  4. IRF8 mutations and human dendritic-cell immunodeficiency. (PMID: 21524210) Hambleton S … Gros P (The New England journal of medicine 2011) 3 4 58
  5. Hepatitis B viraemia: its heritability and association with common genetic variation in the interferon gamma signalling pathway. (PMID: 20980339) Huang HH … Yu MW (Gut 2011) 3 44 58

Products for IRF8 Gene

Sources for IRF8 Gene

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