IRF8 Chromosome 16
Interferon regulatory factor 8
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What This Gene Does
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]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Interferon regulatory factors "
Locus Type
gene with protein product
Location
16q24.1
Ensembl
ENSG00000140968
Associated Conditions (6)
Immunodeficiency 32B
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Inherited Immunodeficiency Diseases
IRF8-related disorder
Inborn genetic diseases
Esophageal atresia/tracheoesophageal fistula
Key Variants
RS144424711
Conflicting classifications of pathogenicity
Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Immunodeficiency 32B
Health Risk
RS1567479117
Conflicting classifications of pathogenicity
Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Inherited Immunodeficiency Diseases
Health Risk
RS202046728
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Immunodeficiency 32B, IRF8-related disorder
Health Risk
RS36085113
Conflicting classifications of pathogenicity
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Immunodeficiency 32B, Inborn genetic diseases
Health Risk
RS371410129
Conflicting classifications of pathogenicity
Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, IRF8-related disorder
Health Risk
RS757116654
Conflicting classifications of pathogenicity
Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Inborn genetic diseases
Health Risk
RS763945332
Conflicting classifications of pathogenicity
Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Inborn genetic diseases
Health Risk
RS1905412024
Likely pathogenic
Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
Health Risk
RS397514711
Likely pathogenic
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Health Risk
RS397514710
Pathogenic
Immunodeficiency 32B, Immunodeficiency 32B
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144424711 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Immunodeficiency 32B |
| RS1567479117 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Inherited Immunodeficiency Diseases |
| RS202046728 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Immunodeficiency 32B, IRF8-related disorder |
| RS36085113 | Health Risk | Conflicting classifications of pathogenicity | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Immunodeficiency 32B, Inborn genetic diseases |
| RS371410129 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, IRF8-related disorder |
| RS757116654 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Inborn genetic diseases |
| RS763945332 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Inborn genetic diseases |
| RS1905412024 | Health Risk | Likely pathogenic | Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula |
| RS397514711 | Health Risk | Likely pathogenic | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency |
| RS397514710 | Health Risk | Pathogenic | Immunodeficiency 32B, Immunodeficiency 32B |