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IRAK4 Gene

protein-coding   GIFtS: 63

GC12P044152
interleukin-1 receptor-associated kinase 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for IRAK4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
interleukin-1 receptor-associated kinase 41 2     REN642 5
NY-REN-641 2     IPD12 5
Renal carcinoma antigen NY-REN-642 3     EC 2.7.11.13
IRAK-42 3     

External Ids:    HGNC: 179671   Entrez Gene: 511352   Ensembl: ENSG000001980017   UniProtKB: Q9NWZ33   

Search outside databases for aliases for IRAK4 gene

Previous GC identifers: GC12P044231 GC12P044051 GC12P043869 GC12P042439

Summaries
for IRAK4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  User Feedback		 Entrez Gene summary for IRAK4:
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. (supplied by RefSeq)

UniProtKB/Swiss-Prot: IRAK4_HUMAN, Q9NWZ3
Function: Required for the efficient recruitment of IRAK1 to the IL-1 receptor complex following IL-1 engagement,
triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization.
Phosphorylates IRAK1

Genomic Views
for IRAK4 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the IRAK4 gene upstream (promoter) region "":
NF-kappaB1   IRF-7A   NF-kappaB   ATF-2   SRF   ARP-1   STAT6   STAT5B   STAT5A   STAT3   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for IRAK4:  ""
MePH16459-1A   

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12q12

IRAK4 Gene in genomic location: bands according to Ensembl, locations according to "" (and/or Entrez Gene and/or Ensembl if different)
""

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P044152:  view genomic region     (about GC identifiers)

Start:
 44,152,747 bp from pter
End:
 44,183,346 bp from pter
Size:
 30,600 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  

Proteins
for IRAK4 gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 UniProtKB/Swiss-Prot: IRAK4_HUMAN, Q9NWZ3 (See protein sequence)
Recommended Name: Interleukin-1 receptor-associated kinase 4  
Size: 460 amino acids; 51530 Da
Cofactor: Magnesium
Subunit: IL-1 stimulation leads to the formation of a signaling complex which dissociates from the IL-1 receptor
following the binding of PELI1. Interacts with IL1RL1
PDB structures from "" and Proteopedia "" :
2NRU (3D) ""    2NRY (3D) ""    2O8Y (3D) ""    2OIB (3D) ""    2OIC (3D) ""    2OID (3D) ""    
Secondary accessions: Q8TDF7 Q9Y589

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (5 alternative transcripts): 
    NP_001107654.1  NP_001138728.1  NP_001138729.1  NP_001138730.1  NP_057207.2  


    ENSEMBL proteins: 
    ENSP00000409448 ENSP00000408734 ENSP00000390327 ENSP00000349096 ENSP00000390651 


    Human Recombinant Proteins 
    ""Millipore Purified and/or Recombinant IRAK4 Protein
    ""Sigma-Aldrich Proteins for IRAK4
    "" Browse R&D Systems for human recombinant proteins
    ""Enzo Life Sciences proteins for IRAK4
    ""HuPro® and/or Recombinant Proteins from Abnova for IRAK4 ""
    "" Origene Purified Recombinant Human Protein: IRAK4
    ""Novus Biologicals Proteins for IRAK4  ""
    Novus Biologicals Lysates for IRAK4
    ""Browse Sino Biological Recombinant Proteins  ""

    1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829 cytosol EXP14625308 16024789
    About this table

    "" IRAK4 for ontologies           About GeneDecksing



    Antibodies for IRAK4: 
    ""Millipore Mono- and Polyclonal Antibodies for the study of IRAK4
    ""Sigma-Aldrich Antibodies for IRAK4
    ""R&D Systems Antibodies for IRAK4
    ""Cell Signaling Technology (CST) Antibodies for IRAK4 
    ""Monoclonal and Polyclonal Antibodies from Abnova (IRAK4)
    "" Origene Antibodies (see all 2): IRAK4 ""
    ""Novus Biologicals Antibodies for IRAK4
    ""Browse antibodies at Epitomics

    Assays for IRAK4: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Enzo Life Sciences assays for IRAK4

    Protein Domains/
    Families
    for IRAK4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

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    "" IRAK4 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6 ):
     IPR017428 Interleukin-1_rcpt-assoc_kin4
     IPR011029 DEATH-like
     IPR015787 Interleukin1_rcpt-assoc_kin4_C
     IPR017442 Se/Thr_prot_kinase-like_dom
     IPR011009 Kinase-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9NWZ3

    ProtoNet protein and cluster: Q9NWZ3

    UniProtKB/Swiss-Prot: IRAK4_HUMAN, Q9NWZ3
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily
    Similarity: Contains 1 death domain
    Similarity: Contains 1 protein kinase domain

    Gene Function
    for IRAK4 gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (IRAK4)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 5): IRAK4
    Origene shRNA RFP (see all 5): IRAK4
    Origene basic RS shRNA (see all 5): IRAK4

    ""Applied Biosystems Silencer® siRNAs for IRAK4
    ""Sigma-Aldrich siRNA Panels and siRNA for IRAK4
    Sigma-Aldrich shRNA Panels and shRNA for IRAK4
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 5): IRAK4
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): IRAK4
    Origene untagged cDNA clones in CMV expression vector (see all 9): IRAK4
    ""Browse Sino Biological Human cDNA Clones  ""

    UniProtKB/Swiss-Prot: IRAK4_HUMAN, Q9NWZ3
    Function: Required for the efficient recruitment of IRAK1 to the IL-1 receptor complex following IL-1 engagement,
    triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization.
    Phosphorylates IRAK1
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme Number (IUBMB): EC 2.7.11.1 

    5/9 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0000287 magnesium ion binding IEA--
    GO:0004672 protein kinase activity ----
    GO:0004674 protein serine/threonine kinase activity IEA--
    GO:0005149 interleukin-1 receptor binding IEA--
    About this table

    "" IRAK4 for ontologies           About GeneDecksing

    Animal Models: 4 MGI mutant phenotypes (inferred from 6 alleles"") (MGI details for Irak4):

    cellularhematopoietic systemhomeostasis/metabolismimmune system

    "" IRAK4 for phenotypes           About GeneDecksing

    Pathways & Interactions
    for IRAK4 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" IRAK4 for pathways           About GeneDecksing

    3 "" Millipore Pathways for IRAK4
      ""  Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response
    Immune response MIF in innate immunity response
    Immune response IL-1 signaling pathway

    5/7 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  IRAK4  (Your Favorite Gene powered by Ingenuity) (see all 7 )
      ""  NF-?B Signaling
    p38 MAPK Signaling
    Role of Macrophages, Fibroblasts and Endothelial Cells in Rheumatoid Arthritis
    IL-1 Signaling
    Toll-like Receptor Signaling

    5/13 "" GeneAssist Pathways for IRAK4 (see all 13 )
      ""  p38 Signaling
    Toll Comparative Pathway
    14-3-3 Induced Apoptosis
    iNOS Signaling
    TLR-TRIF Pathway

    4 "" Kegg Pathways  (Kegg details for IRAK4):
      ""  hsa04210 Apoptosis
    hsa04620 Toll-like receptor signaling pathway
    hsa04722 Neurotrophin signaling pathway
    hsa05140 Leishmania infection

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IRAK4

    5/16 Interacting proteins for IRAK4 (ENSP000003490963 Q9NWZ31, 2) via UniProtKB, MINT, and/or STRING (see all 16 ) ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL1RL1Q016381EBI-448378,EBI-993762
    PELI2Q9HAT81EBI-448378,EBI-448407
    IL1AENSP000002633393STRING: ENSP00000263339
    IL1BENSP000002633413STRING: ENSP00000263341
    IL1R1ENSP000002339463STRING: ENSP00000233946
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001816 cytokine production IEA--
    GO:0006468 protein amino acid phosphorylation IEA--
    GO:0007165 signal transduction IEA--
    GO:0007249 I-kappaB kinase/NF-kappaB cascade EXP15276183
    GO:0019221 cytokine-mediated signaling pathway IEA--
    About this table

    "" IRAK4 for ontologies           About GeneDecksing


    Drugs & Compounds
    for IRAK4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" IRAK4 for compounds           About GeneDecksing

    "" Enzo Life Sciences drugs & compounds for IRAK4
    ""Browse Small Molecules at Sigma-Aldrich

    "" Browse Tocris compounds for IRAK4
    10/27 ""Novoseek chemical compound relationships for IRAK4 gene (see all 27 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tab-2 10.98 4 14673102 (2), 18452992 (1), 18353240 (1)
    cpd-1 7.53 3 18579153 (3)
    glycine 2.27 5 17049125 (4), 16635350 (1)
    nadph 1.87 4 17217339 (4)
    threonine 1.73 3 17548806 (1), 17217339 (1), 17161373 (1)
    peptidoglycan 1.47 2 18174872 (1), 17182109 (1)
    sp600125 1.39 1 15890643 (1)
    ly294002 0.93 1 15890643 (1)
    mgatp 0.93 1 20104875 (1)
    wortmannin 0.80 1 15890643 (1)
    About this table


    Transcripts
    for IRAK4 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (IRAK4)
    ""Applied Biosystems Silencer® siRNAs:  NM_001114182  NM_001145256  NM_001145257  NM_001145258  NM_016123  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 5): IRAK4
    Origene shRNA RFP (see all 5): IRAK4
    Origene basic RS shRNA (see all 5): IRAK4

    ""Sigma-Aldrich siRNA Panels and siRNA for IRAK4
    Sigma-Aldrich shRNA Panels and shRNA for IRAK4
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""Search SABiosciences for microRNAs that regulate IRAK4: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_001114182  NM_001145256  NM_001145257  NM_001145258  NM_016123  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 5): IRAK4
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 5): IRAK4
    Origene untagged cDNA clones in CMV expression vector (see all 9): IRAK4
    Primers:"" Origene genome-wide validated SYBR primer pairs: IRAK4
    ""SABiosciences RT2 qPCR Primer Assay for IRAK4: PPH06036A ""

    REFSEQ mRNAs for IRAK4 gene (5 alternative transcripts): 

    NM_001114182.2  NM_001145256.1  NM_001145257.1  NM_001145258.1  NM_016123.3  

    Additional cDNA sequence: 

    AF155118.1 AF445802.1 AK000528.1 AK027301.2 AK299944.1 AK304583.1 AK314288.1 AY283670.1 
    AY283671.1 AY340962.1 AY340963.1 AY340964.1 AY340965.1 AY340966.1 AY340967.1 AY730682.1 
    BC013316.1 

    11 DOTS entries:

    DT.109169  DT.91678124  DT.40199684  DT.97861332  DT.121211137  DT.121211143  DT.100035594  DT.100737275 
    DT.121211146  DT.91700262  DT.95343378 

    24/89 AceView cDNA sequences (see all 89 ):

    AY340963 AI401706 BQ020242 BG164491 CA941399 CA398253 AA489049 AY340962 
    AY340966 AY340964 AY340967 AA806159 AA480342 CA941471 CA774834 AK000528 
    AY340965 BM127285 AA565017 H78769 AF445802 AA447173 BG696775 AK027301 

    "" highest scoring ESTs for IRAK4:

    H78659 AA343468 AA447173 AA480342 AA628987 AF155118 AF445802 AK000528 AW204470 AW299858 

    Unigene Cluster for IRAK4:

    Interleukin-1 receptor-associated kinase 4
    Hs.138499  [show with all ESTs]
    Unigene Representative Sequence: NM_001114182


    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for IRAK4 (see all 9 )

    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:                                                                                                        -                                             

    About this scheme

    ECgene alternative splicing isoforms for IRAK4

    5 Ensembl transcripts including schematic representations:
    ENST00000446056  ENST00000440781  ENST00000431837  ENST00000356669  ENST00000448290  

    Expression
    for IRAK4 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    IRAK4 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for IRAK4

    1""  / 2""  / 3""

    4 probe-sets matching IRAK4 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    81368_at2, 3 U95-E 1 1.00 1.00 0.92 0.58 H78659 1.00 1.00 1.00 1
    73626_f_at2 U95-D 304 0.81 0.03 0.29 1.44 -- -- -- -- --
    219618_at2, 3 U133-A 1 1.00 1.00 -- -- NM_016123 0.60 1.00 0.82 1
    219618_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    "" IRAK4 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.138499
    Primers:"" Origene genome-wide validated SYBR primer pairs: IRAK4 ""
    ""SABiosciences RT2 qPCR Primer Assay for IRAK4: PPH06036A ""

    Orthologs
    for IRAK4 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

      User Feedback
    Orthologs for IRAK4 gene from 5/12 species (see all 12 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 IRAK41   -- interleukin-1 receptor-associated kinase 4 92.1(n)
    91.96(a)    		 486601  XM_543727.1  XP_543727.1 
    chimpanzee
    (Pan troglodytes)    		 IRAK41   -- interleukin-1 receptor-associated kinase 4 99.2(n)
    98.26(a)    		 466962  XM_001166075.1  XP_001166075.1 
    cow
    (Bos taurus)    		 IRAK41   -- interleukin-1 receptor-associated kinase 4 91.88(n)
    89.35(a)    		 533692  NM_001075998.1  NP_001069466.1 
    rat
    (Rattus norvegicus)    		 Irak41   -- interleukin-1 receptor-associated kinase 4 80.39(n)
    83.66(a)    		 300177  XM_217026.4  XP_217026.4 
    mouse
    (Mus musculus)    		 Irak41, 5 155
    		 interleukin-1 receptor-associated kinase 41, 5 79.16(n)1
    83.22(a)1    		 2666321  NM_029926.41  NP_084202.21 
     AF4458035  AK0203975  (see all 12)
    About this table        Species with no ortholog for IRAK4

    ENSEMBL Gene Tree for IRAK4

    Paralogs
    for IRAK4 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      User Feedback
    Paralogs for IRAK4 gene
    IRAK12  IRAK22  IRAK32  

    "" IRAK4 for paralogs           About GeneDecksing


    Genomic Variants
    for IRAK4 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

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    10/241 NCBI SNPs in IRAK4 are shown (see all 241 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 144)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs14615671,2
    		C,F,A,H41191882(-) catgaC/Tgacat 5 -- int1 ng51""31Minor allele frequency- T:0.28NS EA NA MN 2554""
    ""
    rs42514511,2
    		C,F,A,H41187494(+) GAACAG/TCTTGG 4 -- int1 ng51""10Minor allele frequency- T:0.03NS EA NA WA 702""
    --
    rs42515551,2
    		C,F,A,H44182312(+) GGATGT/CGGGAC 5 -- ut31""2Minor allele frequency- C:0.32NS 92""
    ""
    rs42515631,2
    		C,F,H44183279(+) AAACGG/AGCTAA 5 -- ut31""9Minor allele frequency- A:0.03NS EA NA 646""
    ""
    rs42514661,2
    		C,F,A41191634(+) TCTCTC/TTGTAA 5 -- int1 ng51""17Minor allele frequency- T:0.12NS EA NA WA 1468""
    ""
    rs37942621,2
    		C,F,A41192623(-) CCAGAA/TGTATG 5 -- int1 ng51""17Minor allele frequency- T:0.19EA NS NA WA 2702""
    ""
    rs42380871,2
    		C,F,A41191498(+) AATTCA/GTATGA 5 -- int1 ng51""20Minor allele frequency- G:0.08NS EA NA MN 1618""
    ""
    rs42514561,2
    		C,F,H41188454(+) AAAGAT/GTCTGT 4 -- int1 ng51""8Minor allele frequency- G:0.01NS EA WA NA 562""
    ""
    rs42515451,2
    		C,F,A44180295(+) TTGAAG/ACTATG 10 /T /A mis1 ref1""22Minor allele frequency- A:0.15NS EA NA WA 1914""
    ""
    rs42514311,2
    		C,F,A41181883(+) GTTTTG/TTTTTT 2 -- ng51""8Minor allele frequency- T:0.11NS EA NA WA 616""
    About this table

    HapMap Linkage Disequilibrium images for IRAK4 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 2 variations for IRAK4
         2 CNVs: 86348 86347

    Disorders & Mutations
    for IRAK4 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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    "" IRAK4 for disorders           About GeneDecksing

    OMIM: 606883   disorders: 607676  610799  

    UniProtKB/Swiss-Prot: IRAK4_HUMAN, Q9NWZ3

  • Defects in IRAK4 are the cause of recurrent isolated invasive pneumococcal disease type 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
  • Defects in IRAK4 are the cause of IRAK4 deficiency [MIM:607676]. IRAK4 deficiency causes extracellular
    • pyogenic bacterial and fungal infections in otherwise healthy children

    10/49 ""Novoseek disease relationships for IRAK4 gene (see all 49 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    bacterial infection 8.69 9 19689377 (1), 19430930 (1), 18986247 (1), 18174872 (1) (see all 9)
    recurrent bacterial infection 6.98 3 15905496 (2), 12925671 (1)
    primary immunodeficiency 6.53 4 17917042 (1), 17893200 (1), 17142536 (1), 15825022 (1)
    shigellosis 6.20 4 15825022 (3), 19814626 (1)
    innate immune response 4.88 4 19805818 (1), 19770394 (1), 19167362 (1), 17485511 (1)
    inflammatory response 4.37 7 18992325 (2), 15825022 (2), 19351492 (1), 19167362 (1) (see all 5)
    meningitis pneumococcal 3.19 2 15520784 (2)
    pericarditis; staphylococcal 3.09 1 18174872 (1)
    immunodeficiency 2.89 5 18174872 (1), 15825022 (1), 15384045 (1), 14734108 (1) (see all 5)
    cold ischemia 2.83 2 17037726 (2)
    About this table

    Locus Specific Mutation Databases: IRAK4
    Human Gene Mutation Database: IRAK4
    Genetic Association Database: IRAK4
    Human Genome Epidemiology Navigator: IRAK4 (9 documents)

    Medical News
    for IRAK4 gene

    (Possibly Related Articles in Doctor's Guide)
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    Publications
    for IRAK4 gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

      User Feedback    		10/108 PubMed articles for IRAK4 gene (see all 108 ):

    Search for IRAK4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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    Genome Databases showing IRAK4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51135 HGNC: 17967 AceView: IRAK4 Ensembl:ENSG00000198001 euGenes: HUgn51135
    ECgene: IRAK4 Kegg: 51135 H-InvDB: IRAK4

    Other Databases showing IRAK4 gene

    (According to HUGE)
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    Specialized Databases showing IRAK4 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    ATLAS Chromosomes in Cancer entry for IRAK4 Genetics and Cytogenetics in Oncology and Haematology
    IRAK4basehttp://bioinf.uta.fi/IRAK4base/
    SeattleSNPshttp://pga.gs.washington.edu/data/irak4/

    Intellectual Property
    for IRAK4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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      User Feedback    		Patent Information for IRAK4 gene: ""
    Search GeneIP for patents involving IRAK4

    GeneCards and IP: ""
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    Services
    for IRAK4 gene

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
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    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    Products for IRAK4:
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