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IRF8

IRF8

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

What is the official name of the IRF8 gene?

The official name of this gene is “interferon regulatory factor 8.”

IRF8 is the gene's official symbol. The IRF8 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the IRF8 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the IRF8 gene related to health conditions?

Genetics Home Reference provides information about rheumatoid arthritis, which is associated with changes in the IRF8 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the IRF8 gene's known or predicted involvement in human disease.

IRF8 deficiency, autosomal dominant (IRF8DD): 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.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

IRF8 deficiency, autosomal recessive (IRF8DR): 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.[2]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the IRF8 gene.
  • Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency[1]This link leads to a site outside Genetics Home Reference.
  • Monocyte and dendritic cell deficiency, autosomal recessive[2]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]

Where is the IRF8 gene located?

Cytogenetic Location: 16q24.1

Molecular Location on chromosome 16: base pairs 85,899,167 to 85,922,605

The IRF8 gene is located on the long (q) arm of chromosome 16 at position 24.1.

The IRF8 gene is located on the long (q) arm of chromosome 16 at position 24.1.

More precisely, the IRF8 gene is located from base pair 85,899,167 to base pair 85,922,605 on chromosome 16.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about IRF8?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the IRF8 gene or gene products?

  • H-ICSBP
  • ICSBP
  • ICSBP1
  • IRF-8

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding IRF8?

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: July 21, 2014