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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 recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [pr... See more...
Aliases for IRAK4 Gene
Aliases for IRAK4 Gene
External Ids for IRAK4 Gene
- HGNC: 17967
- Entrez Gene: 51135
- Ensembl: ENSG00000198001
- OMIM: 606883
- UniProtKB: Q9NWZ3
Previous GeneCards Identifiers for IRAK4 Gene
- GC12P044231
- GC12P044051
- GC12P043869
- GC12P042439
- GC12P044152
- GC12P041181
Summaries for IRAK4 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 recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
GeneCards Summary for IRAK4 Gene
IRAK4 (Interleukin 1 Receptor Associated Kinase 4) is a Protein Coding gene. Diseases associated with IRAK4 include Irak4 Deficiency and Invasive Pneumococcal Disease, Recurrent Isolated. Among its related pathways are Bacterial infections in CF airways and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is IRAK1.
UniProtKB/Swiss-Prot Summary for IRAK4 Gene
-
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 receptor-signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates NCF1 and regulates NADPH oxidase activation after LPS stimulation suggesting a similar mechanism during microbial infections.
-
The IRAKs (Interleukin-1 receptor-associated kinases) are serine-threonine kinases, EC 2.7.11.1, that are essential regulators of IL-1R and TLR-mediated signaling. Four IRAK isoforms have been identified to date, IRAK1, IRAK2, IRAK3 (IRAK-M) and IRAK4.
Additional gene information for IRAK4 Gene
- HGNC(17967)
- Entrez Gene(51135)
- Ensembl(ENSG00000198001)
- OMIM(606883)
- UniProtKB(Q9NWZ3)
- Open Targets Platform(ENSG00000198001)
- Monarch Initiative
- Search for IRAK4 at DataMed
- Search for IRAK4 at HumanCyc
No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRAK4 Gene
Genomics for IRAK4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for IRAK4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around IRAK4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRAK4
- Top Transcription factor binding sites by QIAGEN in the IRAK4 gene promoter:
-
- ATF-2
- Elk-1
- FOXO3
- FOXO3a
- FOXO3b
- IRF-7A
- Pax-2
- Pax-2a
Genomic Locations for IRAK4 Gene
Genomic Locations for IRAK4 Gene
- chr12:43,758,909-43,789,543
- (GRCh38/hg38)
- Size:
- 30,635 bases
- Orientation:
- Plus strand
- chr12:44,152,747-44,183,346
- (GRCh37/hg19)
- Size:
- 30,600 bases
- Orientation:
- Plus strand
Genomic View for IRAK4 Gene
Genes around IRAK4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q12 by HGNC
- 12q12 by Entrez Gene
- 12q12 by Ensembl
IRAK4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for IRAK4 Gene
Proteins for IRAK4 Gene
-
Protein details for IRAK4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NWZ3-IRAK4_HUMAN
- Recommended name:
- Interleukin-1 receptor-associated kinase 4
- Protein Accession:
- Q9NWZ3
- Q69FE1
- Q8TDF7
- Q9Y589
Protein attributes for IRAK4 Gene
- Size:
- 460 amino acids
- Molecular mass:
- 51530 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Associates with MYD88 and IRAK2 to form a ternary complex called the Myddosome. Once phosphorylated, IRAK4 dissociates from the receptor complex and then associates with the TNF receptor-associated factor 6 (TRAF6), IRAK1, and PELI1; this intermediate complex is required for subsequent NF-kappa-B activation. Direct binding of SMAD6 to PELI1 prevents complex formation and hence negatively regulates IL1R-TLR signaling and eventually NF-kappa-B-mediated gene expression. Interacts with IL1RL1.
Three dimensional structures from OCA and Proteopedia for IRAK4 Gene
Protein Expression for IRAK4 Gene
Selected DME Specific Peptides for IRAK4 Gene
- Q9NWZ3:
-
- TSRIVGT
- YMPNGSL
- DFGLARA
Post-translational modifications for IRAK4 Gene
- Phosphorylated.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for IRAK4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005269000.1
- XP_005269001.1
- XP_005269002.1
- XP_005269006.1
- XP_006719501.1
- XP_006719503.1
- XP_006719505.1
- XP_011536733.1
- XP_011536735.1
- XP_016874879.1
- XP_024304776.1
- NP_001107654.1
- NP_001138728.1
- NP_001138729.1
- NP_001138730.1
- NP_001338267.1
- NP_001338268.1
- NP_001338269.1
- NP_001338270.1
- NP_001338271.1
- NP_001338272.1
- NP_001338273.1
- NP_001338274.1
- NP_057207.2
Antibody Products
- Novus Biologicals Antibodies for IRAK4
-
Abcam antibodies for IRAK4
- Invitrogen Antibodies for IRAK4 (AFLGC-IRAK4)
- antibodies-online: Show 45 available IRAK4 Antibodies ranked by validation data
- Compare Top IRAK4 Antibodies
-
Recommended
- 157 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 IF Antibodies (anti-human)
- 2 ICS Antibodies (anti-human)
- 1 IHC (fro) Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 47 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 23 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for IRAK4
-
Santa Cruz Biotechnology (SCBT) Antibodies for IRAK4
- Sino Biological Antibodies for IRAK4
Protein Products
-
OriGene Purified Proteins for IRAK4
- Search Origene for MassSpec and Protein Over-expression Lysates for IRAK4
- Origene Custom Protein Services for IRAK4
- Sino Biological Cell Lysates for IRAK4
- Sino Biological Recombinant Proteins for IRAK4
-
Signalway Proteins for IRAK4
-
Abcam proteins for IRAK4
Assay Products
-
Signalway ELISA kits for IRAK4
-
Abcam assays for IRAK4
Domains & Families for IRAK4 Gene
Gene Families for IRAK4 Gene
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for IRAK4 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for IRAK4 Gene
- GenScript: Design optimal peptide antigens:
-
- Renal carcinoma antigen NY-REN-64 (IRAK4_HUMAN)
- Interleukin-1 receptor-associated kinase 4 variant (Q69FE3_HUMAN)
- Interleukin-1 receptor associated kinase 4 mutant form 2 (Q7Z6A7_HUMAN)
- Interleukin-1 receptor associated kinase 4 mutant form 1 (Q7Z6A8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NWZ3UniProtKB/Swiss-Prot:
IRAK4_HUMAN :- Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily.
- Family:
-
- Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily.
Function for IRAK4 Gene
Molecular function for IRAK4 Gene
- UniProtKB/Swiss-Prot 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 receptor-signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates NCF1 and regulates NADPH oxidase activation after LPS stimulation suggesting a similar mechanism during microbial infections.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=650 uM for ATP (at pH 7.5) {ECO:0000269|PubMed:17312103}; KM=1100 uM for substrate (at pH 7.5) {ECO:0000269|PubMed:17312103};
Enzyme Numbers (IUBMB) for IRAK4 Gene
Phenotypes From GWAS Catalog for IRAK4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000287 | magnesium ion binding | IEA | -- |
| GO:0004672 | protein kinase activity | EXP | 11960013 |
| GO:0004674 | protein serine/threonine kinase activity | TAS | -- |
| GO:0005149 | interleukin-1 receptor binding | IEA | -- |
Phenotypes for IRAK4 Gene
- MGI mutant phenotypes for IRAK4:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for IRAK4:
-
- no effect
- Increased cell death HMECs cells
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased cell elongation
- Decreased ionizing radiation sensitivity
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased HPV16-GFP infection
- Synthetic lethal with vaccinia virus (VACV) infection
- Misorientated spindle
- Increased cell death in HCT116 cells
- Decreased substrate adherent cell growth
- Transferrin accumulation in small spots in the cell periphery
- Decreased simian virus 40 (SV40) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IRAK4 - Select products 50% OFF >
- * IRAK4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IRAK4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRAK4
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRAK4
miRNA for IRAK4 Gene
- miRTarBase miRNAs that target IRAK4
-
- hsa-miR-215-5p (MIRT024734)
- hsa-miR-192-5p (MIRT026168)
- hsa-miR-212-3p (MIRT438881)
- hsa-miR-132-3p (MIRT438882)
- hsa-miR-6716-5p (MIRT508603)
- hsa-miR-4763-3p (MIRT508604)
- hsa-miR-1207-5p (MIRT508605)
- hsa-miR-6722-3p (MIRT508606)
- hsa-miR-1909-3p (MIRT508607)
- hsa-miR-1827 (MIRT508608)
- hsa-miR-4649-3p (MIRT508609)
- hsa-miR-6783-5p (MIRT508610)
- hsa-miR-6893-5p (MIRT508611)
- hsa-miR-940 (MIRT508612)
- hsa-miR-6808-5p (MIRT508613)
- hsa-miR-7851-3p (MIRT508614)
- hsa-miR-490-3p (MIRT508615)
- hsa-miR-665 (MIRT515025)
- hsa-miR-7160-5p (MIRT515026)
- hsa-miR-6884-5p (MIRT515027)
- hsa-miR-485-5p (MIRT515028)
- hsa-miR-4478 (MIRT515029)
- hsa-miR-4419b (MIRT515030)
- hsa-miR-3929 (MIRT515031)
- mmu-miR-539-3p (MIRT598565)
- mmu-miR-381-3p (MIRT598566)
- mmu-miR-3087-3p (MIRT598567)
- mmu-miR-362-3p (MIRT598568)
- mmu-miR-329-3p (MIRT598569)
- hsa-miR-218-1-3p (MIRT629358)
- hsa-miR-6720-5p (MIRT629359)
- hsa-miR-6512-3p (MIRT629360)
- hsa-miR-4772-3p (MIRT629361)
- hsa-miR-7113-3p (MIRT629362)
- hsa-miR-1304-3p (MIRT629363)
- hsa-miR-6791-5p (MIRT629364)
- hsa-miR-4292 (MIRT629365)
- hsa-miR-4308 (MIRT629366)
- hsa-miR-6890-3p (MIRT629367)
- hsa-miR-7152-5p (MIRT643601)
- hsa-miR-3074-5p (MIRT643602)
- hsa-miR-628-5p (MIRT643603)
- hsa-miR-6893-3p (MIRT643604)
- hsa-miR-4327 (MIRT643605)
- hsa-miR-370-3p (MIRT643606)
- hsa-miR-7162-3p (MIRT661893)
- hsa-miR-5089-5p (MIRT690723)
- hsa-miR-7151-3p (MIRT690724)
- hsa-miR-5095 (MIRT690725)
- hsa-miR-5589-5p (MIRT690726)
- hsa-miR-4731-5p (MIRT690727)
- hsa-miR-6506-5p (MIRT690728)
- hsa-miR-6778-3p (MIRT690729)
- hsa-miR-619-5p (MIRT690730)
- hsa-miR-150-5p (MIRT690731)
- hsa-miR-1234-3p (MIRT690732)
- hsa-miR-7107-5p (MIRT690733)
- hsa-miR-186-3p (MIRT690734)
- hsa-miR-520h (MIRT690735)
- hsa-miR-520g-3p (MIRT690736)
- hsa-miR-512-3p (MIRT690737)
- hsa-miR-552-3p (MIRT690738)
- hsa-miR-520e (MIRT690739)
- hsa-miR-520d-3p (MIRT690740)
- hsa-miR-520c-3p (MIRT690741)
- hsa-miR-520b (MIRT690742)
- hsa-miR-520a-3p (MIRT690743)
- hsa-miR-373-3p (MIRT690744)
- hsa-miR-372-3p (MIRT690745)
- hsa-miR-302e (MIRT690746)
- hsa-miR-302d-3p (MIRT690747)
- hsa-miR-302c-3p (MIRT690748)
- hsa-miR-302b-3p (MIRT690749)
- hsa-miR-302a-3p (MIRT690750)
- hsa-miR-93-5p (MIRT690751)
- hsa-miR-526b-3p (MIRT690752)
- hsa-miR-519d-3p (MIRT690753)
- hsa-miR-20b-5p (MIRT690754)
- hsa-miR-20a-5p (MIRT690755)
- hsa-miR-17-5p (MIRT690756)
- hsa-miR-106b-5p (MIRT690757)
- hsa-miR-106a-5p (MIRT690758)
- mmu-miR-367-3p (MIRT731622)
- rno-miR-27a-3p (MIRT732190)
- mmu-miR-106a-5p (MIRT732505)
- mmu-miR-20b-5p (MIRT732506)
- hsa-miR-10a-3p (MIRT733688)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRAK4
- Browse OriGene Inhibitory RNA Products For IRAK4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRAK4
Clone Products
- Applied Biological Materials (abm): Clones for IRAK4 - Select products 50% OFF >
- * IRAK4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207322
- MR207322
- MR207322L3
- MR207322L4
- RC203041
- RC203041L1
- RC203041L2
- RC203041L3
- RC203041L4
- RC225772
- RC225772L1
- RC225772L2
- RC225772L3
- RC225772L4
- RC227336
- RC227336L3
- RC227336L4
- RC227352
- RC227352L3
- RC227352L4
- RC227368
- RC227368L3
- RC227368L4
- RG203041
- RG225772
- RG227336
- RG227352
- RG227368
- RR214308
- RR214308L3
- RR214308L4
- MR207322L3V
- MR207322L4V
- RC203041L1V
- RC203041L2V
- RC203041L3V
- RC203041L4V
- RC225772L1V
- RC225772L2V
- RC225772L3V
- RC225772L4V
- RC227336L3V
- RC227336L4V
- RC227352L3V
- RC227352L4V
- RC227368L3V
- RC227368L4V
- RR214308L3V
- RR214308L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for IRAK4
- Addgene plasmids for IRAK4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRAK4
Cell Line Products
-
Horizon Cell Lines for IRAK4
No data available for Transcription Factor Targets and HOMER Transcription for IRAK4 Gene
Localization for IRAK4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for IRAK4 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| nucleus | 4 |
| endosome | 4 |
| extracellular | 3 |
| cytoskeleton | 3 |
| mitochondrion | 3 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Microtubules (2)
- Nucleoli (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
Pathways & Interactions for IRAK4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated TLR4 signalling | ||
| 2 | Diseases associated with the TLR signaling cascade | ||
| 3 | Toll-like Receptor Signaling Pathway |
.37
|
|
| 4 | Toll Comparative Pathway |
TLR-TRIF Pathway
.61
Toll Comparative Pathway
.61
Immune response MIF in innate immunity response
.46
|
IL-1 Pathway
.39
iNOS Signaling
.34
|
| 5 | Toll-Like receptor Signaling Pathways |
Mucin expression in CF via TLRs, EGFR signaling pathways
.42
Immune response IL-1 signaling pathway
.41
|
|
Pathways by source for IRAK4 Gene
3 Sino Biological pathways for IRAK4 Gene
8 BioSystems pathways for IRAK4 Gene
27 Reactome pathways for IRAK4 Gene
19 KEGG pathways for IRAK4 Gene
7 GeneGo (Thomson Reuters) pathways for IRAK4 Gene
- Bacterial infections in CF airways
- IL-1 beta-dependent CFTR expression
- Immune response Bacterial infections in normal airways
- Immune response IL-1 signaling pathway
- Immune response MIF in innate immunity response
2 R&D Systems pathways for IRAK4 Gene
12 Qiagen pathways for IRAK4 Gene
- 14-3-3 Induced Apoptosis
- IL-1 Pathway
- iNOS Signaling
- MAPK Signaling
- NF-KappaB (p50-p65) Pathway
1 Cell Signaling Technology pathway for IRAK4 Gene
1 GeneTex pathway for IRAK4 Gene
Interacting Proteins for IRAK4 Gene
Selected Interacting proteins:
Q9NWZ3-IRAK4_HUMAN
ENSP00000390651
for IRAK4 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for IRAK4
SIGNOR curated interactions for IRAK4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001816 | cytokine production | IEA | -- |
| GO:0002224 | toll-like receptor signaling pathway | TAS | 21269878 |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002446 | neutrophil mediated immunity | IMP | 19663824 |
| GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | TAS | 21269878 |
Drugs & Compounds for IRAK4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| 1-(3-HYDROXYPROPYL)-2-[(3-NITROBENZOYL)AMINO]-1H-BENZIMIDAZOL-5-YL PIVALATE | Experimental | Pharma | Target | 0 | ||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 | ||
| IRAK inhibitor 1 | Pharma | IRAK-4 inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
(6) ApexBio Compounds for IRAK4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| IRAK inhibitor 1 | IRAK-4 inhibitor | 1042224-63-4 |
| IRAK inhibitor 2 | 928333-30-6 | |
| IRAK inhibitor 3 | 1012343-93-9 | |
| IRAK inhibitor 4 | IRAK inhibitor | 1012104-68-5 |
| IRAK inhibitor 6 | IRAK-4 inhibitor | 1042672-97-8 |
| IRAK-1-4 Inhibitor I | IRAK-1/4 inhibitor | 509093-47-4 |
Transcripts for IRAK4 Gene
mRNA/cDNA for IRAK4 Gene
- 13 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000431837 4147 nts (view in UCSC)
- ENST00000440781 1409 nts (view in UCSC)
- ENST00000448290 1381 nts (view in UCSC)
- ENST00000546780 540 nts (view in UCSC)
- ENST00000547101 1703 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IRAK4 - Select products 50% OFF >
- * IRAK4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IRAK4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRAK4
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRAK4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRAK4
- Browse OriGene Inhibitory RNA Products For IRAK4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRAK4
Clone Products
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- MG207322
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 |
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| SP9: |
Relevant External Links for IRAK4 Gene
- GeneLoc Exon Structure for
- IRAK4
Expression for IRAK4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Endothelium (Cardiovascular System)
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
- Inner Cell Mass (Early Embryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for IRAK4 Gene
This gene is overexpressed in Whole Blood (x5.8).
This gene is overexpressed in Peripheral blood mononuclear cells (24.6), Platelet (6.7), and Lymph node (6.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IRAK4 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRAK4
SOURCE GeneReport for Unigene cluster for IRAK4 Gene:
Hs.138499Evidence on tissue expression from TISSUES for IRAK4 Gene
- Spleen(4.6)
- Nervous system(4.5)
- Lymph node(3.1)
- Blood(3)
- Intestine(2.7)
- Bone marrow(2.7)
- Skin(2.6)
- Kidney(2.5)
- Lung(2.4)
- Liver(2.4)
- Heart(2.4)
- Thyroid gland(2.2)
- Muscle(2.2)
- Stomach(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for IRAK4 Gene
Germ Layers:
- endoderm
- mesoderm
Systems:
- immune
- lymphatic
- respiratory
Regions:
Thorax:
- lung
General:
- blood
- bone marrow
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for IRAK4
-
OriGene qPCR primer pairs and template standards for IRAK4
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for IRAK4 Gene
Orthologs for IRAK4 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IRAK4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IRAK4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IRAK4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Irak4 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Irak4 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | IRAK4 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IRAK4 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | IRAK4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | irak4 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | irak4 30 31 |
|
OneToOne | |
| -- 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | pll 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | pik-1 31 32 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | APK2A 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os10g0405100 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for IRAK4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for IRAK4 Gene
- ENSEMBL:
- Gene Tree for IRAK4 (if available)
- TreeFam:
- Gene Tree for IRAK4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for IRAK4: view image
Paralogs for IRAK4 Gene
Variants for IRAK4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRAK4 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638849 | Uncertain Significance: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | 43,768,146(+) | G/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 639567 | Uncertain Significance: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | 43,768,224(+) | C/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 643876 | Uncertain Significance: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | 43,772,351(+) | T/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 644295 | Uncertain Significance: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | 43,786,501(+) | T/G | MISSENSE_VARIANT | |
| 649132 | Uncertain Significance: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | 43,782,428(+) | A/C | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv285e199 | CNV | deletion | 23128226 |
Residual Variation Intolerance Score:
30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.20;
69.79% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for IRAK4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRAK4 Gene
Disorders for IRAK4 Gene
(15) MalaCards diseases for IRAK4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| irak4 deficiency |
|
|
| invasive pneumococcal disease, recurrent isolated |
|
|
| myd88 deficiency |
|
|
| maxillary sinusitis |
|
|
| meningitis |
|
Search IRAK4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
IRAK4_HUMAN- Recurrent isolated invasive pneumococcal disease 1 (IPD1) [MIM:610799]: Recurrent invasive pneumococcal disease (IPD) is defined as two episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains. Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD. {ECO:0000269 PubMed:16950813}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- IRAK4 deficiency (IRAK4D) [MIM:607676]: Causes extracellular pyogenic bacterial and fungal infections in otherwise healthy children. {ECO:0000269 PubMed:12637671, ECO:0000269 PubMed:12925671, ECO:0000269 PubMed:17878374, ECO:0000269 PubMed:19663824, ECO:0000269 PubMed:21057262, ECO:0000269 PubMed:24316379}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for IRAK4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for IRAK4 Gene
Publications for IRAK4 Gene
- Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. (PMID: 12925671) Medvedev AE … Vogel SN (The Journal of experimental medicine 2003) 3 4 23 41
- IRAK1 and IRAK4 promote phosphorylation, ubiquitination, and degradation of MyD88 adaptor-like (Mal). (PMID: 20400509) Dunne A … O'Neill LA (The Journal of biological chemistry 2010) 3 4 23
- Polymorphisms in interleukin-1 receptor-associated kinase 4 are associated with total serum IgE. (PMID: 19254290) Tewfik MA … Desrosiers M (Allergy 2009) 3 23 41
- The IRAK-catalysed activation of the E3 ligase function of Pellino isoforms induces the Lys63-linked polyubiquitination of IRAK1. (PMID: 17997719) Ordureau A … Cohen P (The Biochemical journal 2008) 3 4 23
- Association of interacting genes in the toll-like receptor signaling pathway and the antibody response to pertussis vaccination. (PMID: 18987746) Kimman TG … Kerkhof M (PloS one 2008) 3 23 41
ExternalLinks
Products for IRAK4 Gene
- Custom Antibody ServicesOriGene Antibodies for IRAK4
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- OriGene CRISPR knockouts for IRAK4
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- Novus Biologicals Antibodies for IRAK4
- Novus Biologicals proteins and lysates for IRAK4
- Browse Antibodies
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- Abcam antibodies for IRAK4
- Abcam proteins for IRAK4
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- Find your target
- Browse Primary Antibodies
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- Invitrogen Antibodies for IRAK4 (AFLGC-IRAK4)
- ApexBio compounds for IRAK4
- VectorBuilder Custom and pre-made DNA vectors for IRAK4 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for IRAK4 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for IRAK4 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for IRAK4 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for IRAK4
- Addgene plasmids for IRAK4
- antibodies-online: Show 45 available IRAK4 Antibodies ranked by validation data
- Compare Top IRAK4 Antibodies
- Recommended
- 157 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 3 IF Antibodies (anti-human)
- 2 ICS Antibodies (anti-human)
- 1 IHC (fro) Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 47 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 23 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- antibodies-online: Show 11 available IRAK4 Elisa Kits ranked by validation data
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- antibodies-online: Show 14 available IRAK4 Proteins ranked by validation data
- Compare Top IRAK4 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for IRAK4
- Search Santa Cruz Biotechnology (SCBT) for IRAK4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for IRAK4
- Custom Antibody ServicesProSci Antibodies for IRAK4
- Search for IRAK4 Proteins at ProSci
- Horizon Cell Lines for IRAK4
- Browse GeneCopoeia Cell Lines
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for IRAK4
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Sources for IRAK4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB