IRF3 Chromosome 19
Interferon regulatory factor 3
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What This Gene Does
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. The protein plays an important role in the innate immune response against DNA and RNA viruses. Mutations in this gene are associated with Encephalopathy, acute, infection-induced, herpes-specific, 7. [provided by RefSeq, Sep 2020]
Gene Info
Gene Group
Interferon regulatory factors
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000126456
Associated Conditions (7)
Encephalopathy
acute
infection-induced (herpes-specific)
susceptibility to
7
IRF3-related disorder
Multisystem inflammatory syndrome in children
Key Variants
RS143769046
Conflicting classifications of pathogenicity
Encephalopathy, acute, infection-induced (herpes-specific)
Health Risk
RS200392275
Conflicting classifications of pathogenicity
Health Risk
RS200830423
risk factor
Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
Health Risk
RS750526659
Uncertain significance; risk factor
Encephalopathy, acute, infection-induced (herpes-specific)
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143769046 | Health Risk | Conflicting classifications of pathogenicity | Encephalopathy, acute, infection-induced (herpes-specific) |
| RS200392275 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200830423 | Health Risk | risk factor | Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children |
| RS750526659 | Health Risk | Uncertain significance; risk factor | Encephalopathy, acute, infection-induced (herpes-specific) |