Entity Details

Primary name IRF8
Entity type gene
Source Source Link

Details

PrimaryID3394
RefseqGeneNG_029333
SymbolIRF8
Nameinterferon regulatory factor 8
Chromosome16
Location16q24.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsIRF8_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0002273 plasmacytoid dendritic cell differentiation
GO:0002314 germinal center B cell differentiation
GO:0002316 follicular B cell differentiation
GO:0002376 immune system process
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006909 phagocytosis
GO:0006914 autophagy
GO:0006955 immune response
GO:0030099 myeloid cell differentiation
GO:0032479 regulation of type I interferon production
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:0045944 positive regulation of transcription by RNA polymerase II
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
GO:0097028 dendritic cell differentiation
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
614893 OMIMImmunodeficiency 32A (IMD32A)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. The disease is caused by variants affecting the gene represented in this entry.
226990 OMIMImmunodeficiency 32B (IMD32B)An autosomal recessive primary immunodeficiency characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, including disseminated BCG infection and oral candidiasis. The disease is caused by variants affecting the gene represented in this entry.