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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital dyserythropoietic anemia Likely pathogenic rs2540412301 RCV003326055
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (24 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Invasive pneumococcal disease, recurrent isolated Likely pathogenic rs944235493 RCV001815160
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IRAK4-related disorder Pathogenic rs121908002 RCV003390639
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 29172502, 31622099
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 21738793
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 37744344 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27702822, 29363544
★☆☆☆☆
Found in Text Mining only
Anoxia-Ischemia, Brain Anorexia CTD_human_DG 21925238
★☆☆☆☆
Found in Text Mining only
Anoxia-Ischemia, Cerebral Anorexia CTD_human_DG 21925238
★☆☆☆☆
Found in Text Mining only
Anoxic-Ischemic Encephalopathy Anoxic-Ischemic Encephalopathy CTD_human_DG 21925238
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 18190779, 20375592
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 19254290, 20375592
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 18190779, 20375592
★☆☆☆☆
Found in Text Mining only