IRAK3 Chromosome 12
Interleukin 1 receptor associated kinase 3
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What This Gene Does
This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Interleukin 1 receptor associated kinase family"
Locus Type
gene with protein product
Location
12q14.3
Ensembl
ENSG00000090376
Associated Conditions (5)
Susceptibility to severe COVID-19
Asthma-related traits
susceptibility to
5
Ovarian serous cystadenocarcinoma
Key Variants
RS139342884
Conflicting classifications of pathogenicity
Health Risk
RS756789060
Likely pathogenic
Health Risk
RS764674154
Likely pathogenic
Health Risk
RS768767136
Likely risk allele
Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
Health Risk
RS121912630
risk factor
Asthma-related traits, susceptibility to, 5
Health Risk
RS150116809
risk factor
Asthma-related traits, susceptibility to, 5
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139342884 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756789060 | Health Risk | Likely pathogenic | — |
| RS764674154 | Health Risk | Likely pathogenic | — |
| RS768767136 | Health Risk | Likely risk allele | Susceptibility to severe COVID-19, Susceptibility to severe COVID-19 |
| RS121912630 | Health Risk | risk factor | Asthma-related traits, susceptibility to, 5 |
| RS150116809 | Health Risk | risk factor | Asthma-related traits, susceptibility to, 5 |