Gene: IRF8

Alternate names for this Gene: H-ICSBP|ICSBP|ICSBP1|IMD32A|IMD32B|IRF-8

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.1

Description of this Gene: interferon regulatory factor 8

Type of Gene: protein-coding

rs9926664 in IRF8 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1044873 in IRF8 gene and Chronic Lymphocytic Leukemia PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

PMID 21131588 2011 Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.

PMID 22700719 2012 Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.

rs305082 in IRF8 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs391525 in IRF8 gene and Erectile dysfunction PMID 22704111 2012 Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.

rs305082 in IRF8 gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs397514711 in IRF8 gene and IMMUNODEFICIENCY 32A PMID 21524210 2011 IRF8 mutations and human dendritic-cell immunodeficiency.

rs397514710 in IRF8 gene and IMMUNODEFICIENCY 32B PMID 25122610 2014 Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation.

PMID 21524210 2011 IRF8 mutations and human dendritic-cell immunodeficiency.

rs113899791 in IRF8 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 23314186 2013 Genetic variation associated with circulating monocyte count in the eMERGE Network.

rs113899791 in IRF8 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 23314186 2013 Genetic variation associated with circulating monocyte count in the eMERGE Network.

rs7185022 in IRF8 gene and Mucocutaneous Lymph Node Syndrome PMID 22446961 2012 Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.

rs305082 in IRF8 gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs56177354 in IRF8 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs1044873 in IRF8 gene and Small Lymphocytic Lymphoma PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

PMID 21131588 2011 Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.