IRF8 gene

interferon regulatory factor 8

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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). Positively regulates macroautophagy in dendritic cells (PubMed:29434592).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Immunodeficiency 32a
  • Immunodeficiency 32b

From UniProt:

Immunodeficiency 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. [MIM:614893]

Immunodeficiency 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. [MIM:226990]

Cytogenetic Location: 16q24.1, which is the long (q) arm of chromosome 16 at position 24.1

Molecular Location: base pairs 85,899,162 to 85,922,609 on chromosome 16 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 16q24.1, which is the long (q) arm of chromosome 16 at position 24.1
  • ICSBP1
  • IMD32A
  • IMD32B
  • IRF-8