Gene Gene information from NCBI Gene database.
Entrez ID 51135
Gene name Interleukin 1 receptor associated kinase 4
Gene symbol IRAK4
Synonyms (NCBI Gene)
IMD67IPD1IRAK-4NY-REN-64REN64
Chromosome 12
Chromosome location 12q12
Summary 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 recurre
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs114951157 C>T Pathogenic Coding sequence variant, stop gained, synonymous variant
rs121908002 C>T Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs377584435 C>T Likely-pathogenic, pathogenic Intron variant, missense variant, coding sequence variant, 5 prime UTR variant
rs758539498 G>A,T Pathogenic Genic downstream transcript variant, intron variant
rs944235493 A>G Pathogenic Genic downstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
622
miRTarBase ID miRNA Experiments Reference
MIRT024734 hsa-miR-215-5p Microarray 19074876
MIRT026168 hsa-miR-192-5p Microarray 19074876
MIRT438882 hsa-miR-132-3p Luciferase reporter assay 23264652
MIRT438882 hsa-miR-132-3p Luciferase reporter assay 23264652
MIRT438881 hsa-miR-212-3p Luciferase reporter assay 23264652
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0002224 Process Toll-like receptor signaling pathway TAS 21269878
GO:0002376 Process Immune system process IEA
GO:0002446 Process Neutrophil mediated immunity IMP 19663824
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606883 17967 ENSG00000198001
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NWZ3
Protein name Interleukin-1 receptor-associated kinase 4 (IRAK-4) (EC 2.7.11.1) (Renal carcinoma antigen NY-REN-64)
Protein function Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways (PubMed:17878374). Is rapidly recruited by MYD88 to the
PDB 2NRU , 2NRY , 2O8Y , 2OIB , 2OIC , 2OID , 3MOP , 4RMZ , 4U97 , 4U9A , 4XS2 , 4Y73 , 4YO6 , 4YP8 , 4ZTL , 4ZTM , 4ZTN , 5K72 , 5K75 , 5K76 , 5K7G , 5K7I , 5KX7 , 5KX8 , 5T1S , 5T1T , 5UIQ , 5UIR , 5UIS , 5UIT , 5UIU , 5W84 , 5W85 , 6EG9 , 6EGA , 6EGD , 6EGE , 6EGF , 6F3D , 6F3E , 6F3G , 6F3I , 6LXY , 6MOM , 6N8G , 6O8U , 6O94 , 6O95 , 6O9D , 6RFI , 6RFJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07714 PK_Tyr_Ser-Thr 187 454 Protein tyrosine and serine/threonine kinase Domain
Sequence
MNKPITPSTYVRCLNVGLIRKLSDFIDPQEGWKKLAVAIKKPSGDDRYNQFHIRRFEALL
QTGKSPTSELLFDWGTTNCTVGDLVDLLIQNEFFAPASLLLPDAVPKTANTLPSKEAITV
QQKQMPFCDKDRTLMTPVQNLEQSYMPPDSSSPENKSLEVSDTRFHSFSFYELKNVTNNF
DERPISVGGNKMGEGGFGVVYKGYVNNTTVAVKKLAAMVDITTEELKQQFDQEIKVMAKC
QHENLVELLGFSSDGDDLCLVYVYMPNGSLLDRLSCLDGTPPLSWHMRCKIAQGAANGIN
FLHENHHIHRDIKSANILLDEAFTAKISDFGLARASEKFAQTVMTSRIVGTTAYMAPEAL
RGEITPKSDIYSFGVVLLEIITGLPAVDEHREPQLLLDIKEEIEDEEKTIEDYIDKKMND
ADSTSVEAMYSVASQCLHEKKNKRPDIKKVQQLL
QEMTAS
Sequence length 460
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
294
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital dyserythropoietic anemia Likely pathogenic rs2540412301 RCV003326055
Immunodeficiency 67 Likely pathogenic; Pathogenic rs753106997, rs1007276082, rs1429128979, rs2137931667, rs766515269, rs2540488916, rs766102187, rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs1333654771, rs1266375962, rs2540426135
View all (14 more)
RCV001381892
RCV001949238
RCV001970197
RCV001964704
RCV002468721
RCV003062488
RCV003062489
RCV000004042
RCV000004043
RCV000004044
RCV001815159
RCV001040773
RCV002938036
RCV003609487
RCV003610035
RCV003610252
RCV003608725
RCV003860196
RCV000537916
RCV000534734
RCV000640676
RCV000687372
RCV001064313
RCV001058706
RCV001050384
RCV001090028
RCV001195087
RCV001195088
RCV001310222
Invasive pneumococcal disease, recurrent isolated Likely pathogenic rs944235493 RCV001815160
IRAK4-related disorder Pathogenic rs121908002 RCV003390639
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs758539498 RCV005888651
Gastric cancer Benign rs144296954 RCV005928043
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Allergic Fungal Sinusitis Associate 22723975
Anemia Associate 37744344
Anti N Methyl D Aspartate Receptor Encephalitis Associate 33083971
Autoimmune Diseases Stimulate 36234844
Bacterial Infections Associate 17893200, 21057262, 29269280, 37744344
Behcet Syndrome Associate 26785681
Breast Neoplasms Associate 19706770
Breast Neoplasms Stimulate 36234844
Burkitt Lymphoma Associate 29088270
Carcinoma Hepatocellular Associate 30112356