Gene Gene information from NCBI Gene database.
Entrez ID 11213
Gene name Interleukin 1 receptor associated kinase 3
Gene symbol IRAK3
Synonyms (NCBI Gene)
ASRT5IRAKM
Chromosome 12
Chromosome location 12q14.3
Summary This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophag
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs121912630 G>A Risk-factor Coding sequence variant, intron variant, stop gained
rs150116809 G>A,T Risk-factor Splice donor variant
rs367600113 C>T Likely-pathogenic Stop gained, coding sequence variant
rs764674154 ->TGA Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
645
miRTarBase ID miRNA Experiments Reference
MIRT005808 hsa-miR-155-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 20852130
MIRT023129 hsa-miR-124-3p Microarray 18668037
MIRT051159 hsa-miR-16-5p CLASH 23622248
MIRT664811 hsa-miR-4486 HITS-CLIP 23824327
MIRT670949 hsa-miR-605-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 10383454
GO:0000287 Function Magnesium ion binding IEA
GO:0001819 Process Positive regulation of cytokine production IEA
GO:0001960 Process Negative regulation of cytokine-mediated signaling pathway IC 12150927
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604459 17020 ENSG00000090376
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y616
Protein name Interleukin-1 receptor-associated kinase 3 (IRAK-3) (IL-1 receptor-associated kinase M) (IRAK-M) (Inactive IL-1 receptor-associated kinase 3)
Protein function Putative inactive protein kinase which regulates signaling downstream of immune receptors including IL1R and Toll-like receptors (PubMed:10383454, PubMed:29686383). Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling c
PDB 5UKE , 6RUU , 6ZIW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00531 Death 26 106 Death domain Domain
PF00069 Pkinase 165 443 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in eosinophils, dendritic cells and/or monocytes (at protein level) (PubMed:29686383). Expressed predominantly in peripheral blood lymphocytes (PubMed:10383454). {ECO:0000269|PubMed:10383454, ECO:0000269|PubMed:29686383}.
Sequence
Sequence length 596
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neurotrophin signaling pathway   MyD88:MAL(TIRAP) cascade initiated on plasma membrane
Interleukin-1 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs56001649, rs138190862 RCV005907987
RCV005905899
Asthma-related traits, susceptibility to, 5 risk factor rs121912630, rs150116809 RCV000005873
RCV000005874
Familial cancer of breast Benign rs138190862 RCV005905898
Hirschsprung disease, susceptibility to, 1 Likely benign rs776951445 RCV000201309
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 21297081, 22742663
Alzheimer Disease Associate 32755048
Aneurysm Ruptured Associate 33990177
Aortic Dissection Associate 35178459
Asthma Associate 17503328, 33156843, 37029363
Asthma Stimulate 28223794
Carcinoma Hepatocellular Associate 25852282
Cardiomyopathy Hypertrophic Associate 38277535
Cerebral Infarction Associate 35432334
Colitis Lymphocytic Stimulate 25232259