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

  • Interleukin 1 Receptor Associated Kinase 4 2 3 5
  • Interleukin-1 Receptor-Associated Kinase 4 3 4
  • Renal Carcinoma Antigen NY-REN-64 3 4
  • EC 2.7.11.1 4 54
  • IRAK-4 3 4
  • NY-REN-64 3
  • EC 2.7.11 54
  • REN64 3
  • IPD1 3

External Ids for IRAK4 Gene

Previous GeneCards Identifiers for IRAK4 Gene

  • GC12P044231
  • GC12P044051
  • GC12P043869
  • GC12P042439
  • GC12P044152
  • GC12P041181

Summaries for IRAK4 Gene

Entrez Gene Summary 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, 1. Among its related pathways are Activated TLR4 signalling and IL-1 Family Signaling Pathways. 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.

Tocris Summary for IRAK4 Gene

  • 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

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 for IRAK4 Gene

Promoters and enhancers for IRAK4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J043757 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 760.8 +0.3 257 3.6 GTF3C2 CTCF SMARCE1 POLR2A TCF7L2 ATF1 CREB1 MIXL1 MYC CC2D1A IRAK4 PUS7L TWF1 piR-48749-004
GH12J043804 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 +47.0 46957 3.8 ZNF24 ZBTB40 CTCF ZBTB6 SMARCE1 POLR2A ATF1 CREB1 HCFC1 ELF1 TWF1 lnc-IRAK4-5 lnc-PUS7L-2 IRAK4 PUS7L TMEM117
GH12J043795 Enhancer 0.9 Ensembl ENCODE 11 +37.3 37257 1.2 SREBF1 TCF7L2 NR2F1 NR2F6 NCOA3 CEBPG CEBPA RFX1 CTBP1 OSR2 TMEM117 IRAK4 PUS7L TWF1 lnc-PUS7L-2
GH12J043882 Enhancer 0.6 ENCODE 10.4 +123.8 123809 0.2 CTCF ZNF362 RAD21 ARID2 REST TRIM22 IRF2 ATF3 SMC3 ZNF143 TMEM117 TWF1 IRAK4 PUS7L piR-39098-053 piR-45012-113
GH12J043736 Enhancer 0.4 Ensembl ENCODE 12.4 -21.1 -21144 1.6 JUND ENSG00000257896 HE856047 lnc-IRAK4-2 IRAK4 PUS7L
- 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 UCSC Golden Path with GeneCards custom track

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
chr12:43,758,944-43,789,543
(GRCh38/hg38)
Size:
30,600 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:
IRAK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRAK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for IRAK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IRAK4 Gene

Selected DME Specific Peptides for IRAK4 Gene

Q9NWZ3:
  • TSRIVGT
  • YMPNGSL
  • DFGLARA

Post-translational modifications for IRAK4 Gene

Antibody Products

  • Abcam antibodies 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

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

Q9NWZ3

UniProtKB/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.
genes like me logo Genes that share domains with IRAK4: view

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

Gene Ontology (GO) - Molecular Function for IRAK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0005515 protein binding IPI 12496252
genes like me logo Genes that share ontologies with IRAK4: view
genes like me logo Genes that share phenotypes with IRAK4: view

Human Phenotype Ontology for IRAK4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IRAK4 Gene

MGI Knock Outs for IRAK4:

Animal Model Products

CRISPR Products

miRNA for IRAK4 Gene

miRTarBase miRNAs that target IRAK4

Clone Products

  • Addgene plasmids 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRAK4 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
endosome 4
extracellular 3
cytoskeleton 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Microtubules (2)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IRAK4 Gene

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,IBA --
genes like me logo Genes that share ontologies with IRAK4: view

Pathways & Interactions for IRAK4 Gene

PathCards logo

SuperPathways for IRAK4 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Diseases associated with the TLR signaling cascade
3 Toll-like Receptor Signaling Pathway
4 Toll Comparative Pathway
.61
.61
.39
.34
5 IL-1 signaling pathway
genes like me logo Genes that share pathways with IRAK4: view

Pathways by source for IRAK4 Gene

SIGNOR curated interactions for IRAK4 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process 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
genes like me logo Genes that share ontologies with IRAK4: view

Drugs & Compounds for IRAK4 Gene

(14) Drugs for IRAK4 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

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, Full agonist, Antagonist, Pore Blocker, Potentiation 0
IRAK inhibitor 1 Pharma IRAK-4 inhibitor 0

(1) Additional Compounds for IRAK4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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
genes like me logo Genes that share compounds with IRAK4: view

Transcripts for IRAK4 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for IRAK4

Alternative Splicing Database (ASD) splice patterns (SP) for IRAK4 Gene

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
SP1: - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: -
SP6:
SP7: - - - -
SP8: - -
SP9:

Relevant External Links for IRAK4 Gene

GeneLoc Exon Structure for
IRAK4
ECgene alternative splicing isoforms for
IRAK4

Expression for IRAK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IRAK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IRAK4 Gene

This gene is overexpressed in Whole Blood (x5.8).

Protein differential expression in normal tissues from HIPED for IRAK4 Gene

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



Protein tissue co-expression partners for IRAK4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IRAK4 Gene:

IRAK4

SOURCE GeneReport for Unigene cluster for IRAK4 Gene:

Hs.138499

Evidence on tissue expression from TISSUES for IRAK4 Gene

  • Spleen(4.5)
  • Nervous system(4.2)
  • Blood(2.4)
  • Lymph node(2.4)

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
genes like me logo Genes that share expression patterns with IRAK4: view

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.

Orthologs for IRAK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IRAK4 33 32
  • 99.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IRAK4 33 32
  • 92.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IRAK4 33 32
  • 92.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Irak4 32
  • 80.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 80 (a)
OneToMany
-- 33
  • 75 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Irak4 17 33 32
  • 79.23 (n)
oppossum
(Monodelphis domestica)
Mammalia IRAK4 33
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves IRAK4 33 32
  • 69.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IRAK4 33
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia irak4 32
  • 66.52 (n)
zebrafish
(Danio rerio)
Actinopterygii irak4 33 32
  • 52.25 (n)
OneToOne
-- 32
fruit fly
(Drosophila melanogaster)
Insecta pll 33 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pik-1 33 34
  • 26 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons APK2A 32
  • 52.85 (n)
rice
(Oryza sativa)
Liliopsida Os10g0405100 32
  • 47.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 27 (a)
OneToOne
Species where no ortholog for IRAK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

Paralogs for IRAK4 Gene

genes like me logo Genes that share paralogs with IRAK4: view

Variants for IRAK4 Gene

Sequence variations from dbSNP and Humsavar for IRAK4 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs111813306 uncertain-significance, IRAK4 deficiency 43,788,798(+) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs111935971 uncertain-significance, IRAK4 deficiency 43,774,004(+) G/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs1141168 benign, IRAK4 deficiency 43,788,903(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs114820168 likely-benign, IRAK4 deficiency 43,783,707(+) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs114951157 pathogenic, IRAK4 deficiency 43,772,968(+) C/T coding_sequence_variant, stop_gained, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for IRAK4 Gene

Variant ID Type Subtype PubMed ID
dgv285e199 CNV deletion 23128226

Variation tolerance for IRAK4 Gene

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

Human Gene Mutation Database (HGMD)
IRAK4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRAK4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRAK4 Gene

Disorders for IRAK4 Gene

MalaCards: The human disease database

(14) MalaCards diseases for IRAK4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with IRAK4: view

No data available for Genatlas for IRAK4 Gene

Publications for IRAK4 Gene

  1. 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 43 56
  2. 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 56
  3. Polymorphisms in interleukin-1 receptor-associated kinase 4 are associated with total serum IgE. (PMID: 19254290) Tewfik MA … Desrosiers M (Allergy 2009) 3 23 43 56
  4. 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 43 56
  5. 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 56

Products for IRAK4 Gene

Sources for IRAK4 Gene