Human Gene IRF8 (ENST00000268638.10_5) from GENCODE V47lift37
  Description: interferon regulatory factor 8, transcript variant 2 (from RefSeq NM_002163.4)
Gencode Transcript: ENST00000268638.10_5
Gencode Gene: ENSG00000140968.12_12
Transcript (Including UTRs)
   Position: hg19 chr16:85,932,768-85,956,212 Size: 23,445 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr16:85,936,622-85,954,888 Size: 18,267 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:85,932,768-85,956,212)mRNA (may differ from genome)Protein (426 aa)
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-  Comments and Description Text from UniProtKB
  ID: IRF8_HUMAN
DESCRIPTION: RecName: Full=Interferon regulatory factor 8; Short=IRF-8; AltName: Full=Interferon consensus sequence-binding protein; Short=H-ICSBP; Short=ICSBP;
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).
SUBUNIT: 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.
INTERACTION: O14896:IRF6; NbExp=3; IntAct=EBI-2866563, EBI-6115643;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Predominantly expressed in lymphoid tissues.
INDUCTION: By IFNG/IFN-gamma.
PTM: 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).
SIMILARITY: Belongs to the IRF family.
SIMILARITY: Contains 1 IRF tryptophan pentad repeat DNA-binding domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IRF8
Diseases sorted by gene-association score: immunodeficiency 32a, mycobacteriosis, autosomal dominant* (1650), immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive* (1300), leukemia, chronic myeloid, somatic (11), oral candidiasis (6), bone marrow cancer (2), leukemia, acute myeloid (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 64.21 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 228.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.0063-0.349 Picture PostScript Text
3' UTR -363.101324-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019817 - Interferon_reg_fac_CS
IPR001346 - Interferon_reg_fact_DNA-bd_dom
IPR019471 - Interferon_reg_factor-3
IPR017855 - SMAD_dom-like
IPR008984 - SMAD_FHA_domain
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00605 - Interferon regulatory factor transcription factor
PF10401 - Interferon-regulatory factor 3

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
49879 - SMAD/FHA domain

ModBase Predicted Comparative 3D Structure on Q02556
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0005515 protein binding
GO:0044212 transcription regulatory region DNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006909 phagocytosis
GO:0006955 immune response
GO:0009617 response to bacterium
GO:0030099 myeloid cell differentiation
GO:0032729 positive regulation of interferon-gamma production
GO:0032735 positive regulation of interleukin-12 production
GO:0042742 defense response to bacterium
GO:0042832 defense response to protozoan
GO:0044130 negative regulation of growth of symbiont in host
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter
GO:0060333 interferon-gamma-mediated signaling pathway
GO:0060337 type I interferon signaling pathway
GO:0071222 cellular response to lipopolysaccharide
GO:0071346 cellular response to interferon-gamma

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK313524 - Homo sapiens cDNA, FLJ94082, highly similar to Homo sapiens interferon consensus sequence binding protein 1(ICSBP1), mRNA.
LP895330 - Sequence 194 from Patent EP3253886.
FW340063 - Screening.
BC126247 - Homo sapiens interferon regulatory factor 8, mRNA (cDNA clone MGC:161525 IMAGE:8991963), complete cds.
M91196 - Homo sapiens DNA-binding protein mRNA, complete cds.
AX721097 - Sequence 57 from Patent WO0220754.
AB463791 - Synthetic construct DNA, clone: pF1KB7715, Homo sapiens IRF8 gene for interferon regulatory factor 8, without stop codon, in Flexi system.
KJ891420 - Synthetic construct Homo sapiens clone ccsbBroadEn_00814 IRF8 gene, encodes complete protein.
JD134830 - Sequence 115854 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q02556 (Reactome details) participates in the following event(s):

R-HSA-909733 Interferon alpha/beta signaling
R-HSA-877300 Interferon gamma signaling
R-HSA-913531 Interferon Signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A0AV82, ENST00000268638.1, ENST00000268638.2, ENST00000268638.3, ENST00000268638.4, ENST00000268638.5, ENST00000268638.6, ENST00000268638.7, ENST00000268638.8, ENST00000268638.9, ICSBP1 , IRF8 , IRF8_HUMAN, NM_002163, Q02556, uc317iod.1, uc317iod.2
UCSC ID: ENST00000268638.10_5
RefSeq Accession: NM_002163.4
Protein: Q02556 (aka IRF8_HUMAN or ICSB_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.