Information on IRAK4
Basic details
Alt. symbols: NY-REN-64
Approved name: interleukin 1 receptor associated kinase 4
Alt. names: interleukin1 receptorassociated kinase 4 | renal carcinoma antigen NYREN64
Location: 12q12: 43758944 - 43798307 (+)
Gene type: protein_coding, 18 transcripts.
Scores: LoFtool: 0.284000 | pLI: 0.00057687 | LOEUF: 1.052
Normal function
This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signalling pathways. The protein is essential for most innate immune responses.
Dysfunction and disease
Biallelic mutations in the gene cause Invasive pneumococcal disease, recurrent isolated, 1 [MIM:610799] and IRAK4 deficiency [MIM:607676]. Disorders characterized by recurrent infections with pyogenic bacteria and recurrent invasive pneumococcal disease. [Load More]
[Reviewed by Andrés Caballero-Oteyza on ]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD67 |
Immunodeficiency 67 | AR |
607676 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of IRAK4
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 214 | ENST00000613694.5 | 1 | CCDS8744 | Select | protein_coding | 12 | Yes | 4284 | NM_001114182,NM_016123 |
| 202 | ENST00000440781.6 | CCDS44862 | protein_coding | 10 | No | 1409 | NM_001145256,NM_001145257,NM_001145258,NM_001351338,NM_001351339,NM_001351340,NM_001351341,NM_001351342,NM_001351343,NM_001351344 | ||
| 212 | ENST00000551736.5 | CCDS8744 | protein_coding | 13 | No | 1684 | NM_001351345 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| G298D |
EX8 | 968 | c.893G>A | p.Gly298Asp | missense_variant | Pathogenic | 0 |
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in IRAK4
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 150 |
2009 | Impaired neutrophil migration and phagocytosis in IRAK-4 def... | Br. J. Haematol. | 19663824 |
1 |
| 151 |
2014 | Functional assessment of the mutational effects of human IRA... | Mol. Immunol. | 24316379 |
1 |
| 152 |
2018 | Mechanism of dysfunction of human variants of the IRAK4 kina... | J. Biol. Chem. | 30115681 |
1 |