Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51135
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 1 receptor associated kinase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRAK4
Synonyms (NCBI Gene) Gene synonyms aliases
IMD67, IPD1, IRAK-4, NY-REN-64, REN64
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD67
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0002224 Process Toll-like receptor signaling pathway TAS 21269878
GO:0002446 Process Neutrophil mediated immunity IMP 19663824
GO:0002755 Process MyD88-dependent toll-like receptor signaling pathway TAS 21269878
GO:0004672 Function Protein kinase activity EXP 11960013
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606883 17967 ENSG00000198001
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Immunodeficiency immunodeficiency 67 GenCC
Associations from Text Mining
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