IRAK4 Chromosome 12
Interleukin 1 receptor associated kinase 4
Upload your DNA to see your personal genotypes for variants in IRAK4.
What This Gene Does
This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Interleukin 1 receptor associated kinase family
Locus Type
gene with protein product
Location
12q12
Ensembl
ENSG00000198001
Associated Conditions (6)
Immunodeficiency 67
Inborn genetic diseases
Congenital dyserythropoietic anemia
Invasive pneumococcal disease
recurrent isolated
IRAK4-related disorder
Key Variants
RS144854858
Conflicting classifications of pathogenicity
Immunodeficiency 67, Immunodeficiency 67
Health Risk
RS17851028
Conflicting classifications of pathogenicity
Immunodeficiency 67, Immunodeficiency 67
Health Risk
RS201782959
Conflicting classifications of pathogenicity
Immunodeficiency 67, Inborn genetic diseases, Immunodeficiency 67
Health Risk
RS375755560
Conflicting classifications of pathogenicity
Immunodeficiency 67, Immunodeficiency 67
Health Risk
RS377584435
Conflicting classifications of pathogenicity
Immunodeficiency 67, Immunodeficiency 67
Health Risk
RS56312115
Conflicting classifications of pathogenicity
Immunodeficiency 67, Immunodeficiency 67
Health Risk
RS773095217
Conflicting classifications of pathogenicity
Immunodeficiency 67, Immunodeficiency 67
Health Risk
RS1555169270
Likely pathogenic
Immunodeficiency 67, Immunodeficiency 67
Health Risk
RS2540412301
Likely pathogenic
Congenital dyserythropoietic anemia, Congenital dyserythropoietic anemia
Health Risk
RS944235493
Likely pathogenic
Immunodeficiency 67, Invasive pneumococcal disease, recurrent isolated
Health Risk
RS1007276082
Pathogenic
Immunodeficiency 67, Immunodeficiency 67
Health Risk
RS121908002
Pathogenic
Immunodeficiency 67, IRAK4-related disorder, Immunodeficiency 67
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144854858 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 67, Immunodeficiency 67 |
| RS17851028 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 67, Immunodeficiency 67 |
| RS201782959 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 67, Inborn genetic diseases, Immunodeficiency 67 |
| RS375755560 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 67, Immunodeficiency 67 |
| RS377584435 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 67, Immunodeficiency 67 |
| RS56312115 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 67, Immunodeficiency 67 |
| RS773095217 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 67, Immunodeficiency 67 |
| RS1555169270 | Health Risk | Likely pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS2540412301 | Health Risk | Likely pathogenic | Congenital dyserythropoietic anemia, Congenital dyserythropoietic anemia |
| RS944235493 | Health Risk | Likely pathogenic | Immunodeficiency 67, Invasive pneumococcal disease, recurrent isolated |
| RS1007276082 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS121908002 | Health Risk | Pathogenic | Immunodeficiency 67, IRAK4-related disorder, Immunodeficiency 67 |
| RS1266375962 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1333654771 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1416395914 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1421444086 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1429128979 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1443126481 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1555167566 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1565678077 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1565688667 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1940376224 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1940921909 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1940922749 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1941410085 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1941465194 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS1941856970 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS2137931667 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS2540412097 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS2540426135 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS2540436653 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS2540481422 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS2540488916 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS766102187 | Health Risk | Pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS114951157 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS753106997 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 67, Immunodeficiency 67 |
| RS766515269 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 67, Immunodeficiency 67 |