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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IRF5 Gene

protein-coding   GIFtS: 61
GCID: GC07P128577

Interferon Regulatory Factor 5

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Interferon Regulatory Factor 51 2
IRF-52 3
SLEB102 5
IBD145

External Ids:    HGNC: 61201   Entrez Gene: 36632   Ensembl: ENSG000001286047   OMIM: 6072185   UniProtKB: Q135683   

Export aliases for IRF5 gene to outside databases

Previous GC identifers: GC07P127056 GC07P128118 GC07P128131 GC07P128171 GC07P128365 GC07P122939


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

Entrez Gene summary for IRF5 Gene:
This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with
diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation,
apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal
DNA-binding domain containing tryptophan (W) repeats. Multiple transcript variants encoding different isoforms
have been found for this gene, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa
segment. (provided by RefSeq, Mar 2010)

GeneCards Summary for IRF5 Gene: 
IRF5 (interferon regulatory factor 5) is a protein-coding gene. Diseases associated with IRF5 include inflammatory bowel disease 14, and systemic scleroderma, and among its related super-pathways are Toll-like receptor signaling pathway and Interferon Signaling. GO annotations related to this gene include regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is IRF8.

UniProtKB/Swiss-Prot: IRF5_HUMAN, Q13568
Function: Transcription factor involved in the induction of interferons IFNA and INFB and inflammatory cytokines
upon virus infection. Activated by TLR7 or TLR8 signaling

Gene Wiki entry for IRF5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IRF5 gene promoter:
         p53   AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IRF5 promoter sequence
   Search SABiosciences Chromatin IP Primers for IRF5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IRF5


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

Entrez Gene cytogenetic band: 7q32   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q32

IRF5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IRF5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P128577:  view genomic region     (about GC identifiers)

Start:
128,577,666 bp from pter      End:
128,590,089 bp from pter
Size:
12,424 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 127,961,737-127,973,832     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IRF5_HUMAN, Q13568 (See protein sequence)
Recommended Name: Interferon regulatory factor 5  
Size: 498 amino acids; 56044 Da
Subunit: Homodimer, when phosphorylated
Subcellular location: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm
1 PDB 3D structure from and Proteopedia for IRF5:
3DSH (3D)    
Secondary accessions: A4D1J8 A8DUA8 A8DUA9 E7EQ16 E7EW54 Q64GA9 Q64GB1 Q64GB2 Q6RCM8 Q9BQF0
Alternative splicing: 5 isoforms:  Q13568-1   Q13568-2   Q13568-3   Q13568-4   Q13568-5   

Explore the universe of human proteins at neXtProt for IRF5: NX_Q13568

Explore proteomics data for IRF5 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of serine and threonine residues in a C-terminal autoinhibitory region, stimulates dimerization,
    transport into the nucleus, assembly with the coactivator CBP/p300 and initiation of transcription
  • UniProtKB: 'Lys-63'-linked polyubiquitination by TRAF6 is required for activation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13568

  • IRF5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IRF5 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001092097.2  NP_001092099.1  NP_001092100.1  NP_001229381.1  NP_116032.1  

    ENSEMBL proteins: 
     ENSP00000418037   ENSP00000349770   ENSP00000419950   ENSP00000417770   ENSP00000419056  
     ENSP00000385352   ENSP00000420274   ENSP00000417454   ENSP00000419149   ENSP00000418534  
     ENSP00000249375  
    Reactome Protein details: Q13568
    Human Recombinant Protein Products for IRF5: 
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    Novus Biologicals IRF5 Proteins
    Novus Biologicals IRF5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for IRF5 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    IRF5 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for IRF5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR001346 Interferon_reg_fact_DNA-bd_dom
     IPR008984 SMAD_FHA_domain
     IPR019817 Interferon_reg_fac_CS
     IPR019471 Interferon_reg_factor-3
     IPR011991 WHTH_DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q13568

    ProtoNet protein and cluster: Q13568

    1 Blocks protein domain: IPB001346 Interferon regulatory factor

    UniProtKB/Swiss-Prot: IRF5_HUMAN, Q13568
    Similarity: Belongs to the IRF family
    Similarity: Contains 1 IRF tryptophan pentad repeat DNA-binding domain


    IRF5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRF5_HUMAN, Q13568
    Function: Transcription factor involved in the induction of interferons IFNA and INFB and inflammatory cytokines
    upon virus infection. Activated by TLR7 or TLR8 signaling

         Genatlas biochemistry entry for IRF5:
    interferon regulatory factor 5,56kDa

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000975regulatory region DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
         
    IRF5 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Irf5):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  normal 

    IRF5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Irf5tm1Ttg for IRF5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for IRF5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for IRF5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IRF5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IRF5 

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate IRF5:
    hsa-miR-22 hsa-miR-3678-3p hsa-miR-3194-5p hsa-miR-516a-3p hsa-miR-3143 hsa-miR-516b* hsa-miR-1912
    SwitchGear 3'UTR luciferase reporter plasmidIRF5 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IRF5 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Toll-like receptor signaling pathway
    Toll-like receptor signaling pathway0.93
    Toll-like receptor signaling pathway0.93
    2Interferon Signaling
    Interferon Signaling0.61
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.61
    3Immune System
    Immune System0.56
    4Immune response IFN alpha/beta signaling pathway
    Interferon alpha/beta signaling0.45
    5Apoptosis Modulation and Signaling
    Apoptosis0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for IRF5
        Lymphocyte Signaling
    NF-kappaB Signaling

    4 BioSystems Pathways for IRF5
        Apoptosis
    Senescence and Autophagy
    Toll-like receptor signaling pathway
    Direct p53 effectors

    5        Reactome Pathways for IRF5
        Interferon alpha/beta signaling
    Interferon gamma signaling
    Cytokine Signaling in Immune system
    Interferon Signaling
    Immune System


    1         Kegg Pathway  (Kegg details for IRF5):
        Toll-like receptor signaling pathway


    IRF5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IRF5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/106 Interacting proteins for IRF5 (Q135681, 3 ENSP000003497704) via UniProtKB, MINT, STRING, and/or I2D (see all 106)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000224145Q9C0193, ENSP000003982244I2D: score=1 STRING: ENSP00000398224
    ENSG00000137384Q9C0193I2D: score=1 
    ENSG00000227147Q9C0193I2D: score=1 
    ENSG00000233599Q9C0193I2D: score=1 
    ENSG00000235259Q9C0193I2D: score=1 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0032494response to peptidoglycan IDA--
    GO:0032495response to muramyl dipeptide IDA--

    IRF5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IRF5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IRF5

    2 Novoseek inferred chemical compound relationships for IRF5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 1.4 3 15657875 (1), 20453440 (1), 19758313 (1)
    vegf 0 1 15492278 (1)

    Search CenterWatch for drugs/clinical trials and news about IRF5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IRF5 gene (5 alternative transcripts): 
    NM_001098627.2  NM_001098629.1  NM_001098630.1  NM_001242452.1  NM_032643.3  

    Unigene Cluster for IRF5:

    Interferon regulatory factor 5
    Hs.521181  [show with all ESTs]
    Unigene Representative Sequence: NM_001098629
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000489702 ENST00000488569(uc011kot.1) ENST00000357234(uc010lls.1 uc010llw.1)
    ENST00000477535 ENST00000479582 ENST00000464557 ENST00000461416(uc010llr.1 uc011kou.1 uc010llv.1)
    ENST00000402030(uc003voh.3 uc003vog.3 uc010llt.3 uc003voj.4)
    ENST00000473787 ENST00000467002 ENST00000473745(uc010llu.1 uc003vok.2)
    ENST00000465603 ENST00000249375(uc003voi.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate IRF5:
    hsa-miR-22 hsa-miR-3678-3p hsa-miR-3194-5p hsa-miR-516a-3p hsa-miR-3143 hsa-miR-516b* hsa-miR-1912
    SwitchGear 3'UTR luciferase reporter plasmidIRF5 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK293654.1 AK297083.1 AL713733.1 AY504946.1 AY504947.1 AY693665.1 AY693666.1 AY693667.1 
    AY693668.1 AY693669.1 BC004139.2 BC004201.2 DQ277633.1 DQ995491.1 EU258895.1 EU258896.1 
    EU258897.1 EU258898.1 U51127.1 

    13 DOTS entries:

    DT.413457  DT.92422943  DT.100742186  DT.121064067  DT.102840289  DT.121064069  DT.99931478  DT.95083057 
    DT.100023208  DT.121064074  DT.95181648  DT.121064061  DT.99948387 

    24/96 AceView cDNA sequences (see all 96):

    BF223643 AW073783 AI028035 AI086403 AI985567 CR610038 AL713733 AI769697 
    AI356449 BF939972 AY693667 AY693666 AY504946 CA946780 CD672903 BU950357 
    NM_032643 AI861864 AY693665 NM_002200 AY504947 BC004139 BC004201 AI341354 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for IRF5 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12
    SP1:                                -                 -                       -                                       
    SP2:                                -                 -                       -           -                           
    SP3:                                -                 -                       -           -     -                     
    SP4:                                -                                                                                 
    SP5:        -     -     -     -     -                 -                                                               


    ECgene alternative splicing isoforms for IRF5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IRF5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCTGATTT
    IRF5 Expression
    About this image


    See IRF5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IRF5

    SOURCE GeneReport for Unigene cluster: Hs.521181
        SABiosciences Expression via Pathway-Focused PCR Arrays including IRF5 (see all 7): 
              Cancer Drug Targets in human mouse rat
              Antiviral Response in human mouse rat
              Interferons & Receptors in human mouse rat
              Type I Interferon Response in human mouse rat
              Inflammasomes in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for IRF5 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Irf51 , 5 interferon regulatory factor 51, 5 86.25(n)1
    88.33(a)1
      6 (12.36 cM)5
    270561  NM_001252382.11  NP_001239311.11 
     295266255 
    chicken
    (Gallus gallus)
    Aves IRF51 interferon regulatory factor 5 66.81(n)
    61.81(a)
      430409  NM_001031587.1  NP_001026758.1 
    zebrafish
    (Danio rerio)
    Actinopterygii irf56
    interferon regulatory factor 5
    52(a)
    1 ↔ 1
    4(12670131-12679345)


    ENSEMBL Gene Tree for IRF5 (if available)
    TreeFam Gene Tree for IRF5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IRF5 gene
    IRF82  IRF22  IRF32  IRF42  IRF92  IRF12  IRF72  IRF62  
    18 SIMAP similar genes for IRF5 using alignment to 14 protein entries:     IRF5_HUMAN (see all proteins):
    COQ5    MST132    PFKFB3    TUBA1C    FLJ00047    KIAA0101
    NELFA    IRF6    SUMO1    IRF8    SEC14L3    IRF4
    IRF2    IRF9    IRF1    IRF3    HBP1    AAMDC

    IRF5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for IRF5
    PGOHUM00000249745


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/345 SNPs in IRF5 are shown (see all 345)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs614510311,2
    C--127967535(+) TTTTT-/TTTTT 
     
    /TTTTTT
    GTATT
    10 -- int1 cds11NA 2
    rs342706481,2
    C--127972177(+) ATCCTG/-GGGGC 5 -- int11Minor allele frequency- -:0.50NA 2
    rs38405531,2
    C--128577321(+) GTGTGTG/-AAGGT 4 -- us2k11Minor allele frequency- -:0.50NA 2
    rs37573881,2
    C,F,A,H--131920273(-) AGTTCC/TACCTA 3 -- us2k111Minor allele frequency- T:0.43NA WA CSA EA 374
    rs1463022511,2
    --131920296(+) CACCAC/TGCCAG 3 -- us2k10--------
    rs37573871,2
    C,F,H--131920336(-) ATGGCA/GAAACC 3 -- us2k17Minor allele frequency- G:0.45NA WA CSA 132
    rs1889941631,2
    --131920483(+) CTACCC/TATTCA 3 -- us2k10--------
    rs775209461,2
    C--131920628(+) AGATAA/CAGAAG 4 -- us2k10--------
    rs1406040521,2
    C--131920636(+) AAGAG-/AAAAAA 4 -- us2k10--------
    rs754171321,2
    F--131920637(+) AGAGAG/AAAAAA 4 -- us2k11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for IRF5 (128577666 - 128590089 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for IRF5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735137CNV Deletion23290073
    esv2670312CNV Deletion23128226
    nsv831125CNV Loss17160897
    nsv889192CNV Loss21882294
    esv22837CNV Gain19812545


    Human Gene Mutation Database (HGMD): IRF5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing IRF5
    DNA2.0 Custom Variant and Variant Library Synthesis for IRF5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607218   
    OMIM disorders: 612245  612251  
    UniProtKB/Swiss-Prot: IRF5_HUMAN, Q13568
  • Inflammatory bowel disease 14 (IBD14) [MIM:612245]: A chronic, relapsing inflammation of the
    gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis
    phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most
    frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may
    contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the
    inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not
    observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Systemic lupus erythematosus 10 (SLEB10) [MIM:612251]: A chronic, relapsing, inflammatory, and often
    febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin,
    joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the
    regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an
    elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Rheumatoid arthritis (RA) [MIM:180300]: An inflammatory disease with autoimmune features and a complex
    genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial
    membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal
    tissues, and by atrophy and rarefaction of bony structures. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry

  • 20/35 diseases for IRF5 (see all 35):    About MalaCards
    inflammatory bowel disease 14    systemic scleroderma    primary biliary cirrhosis    dengue hemorrhagic fever
    wegener's granulomatosis    scleroderma    antiphospholipid syndrome    splenic marginal zone lymphoma
    inflammatory bowel disease    systemic lupus erythematosus    hemorrhagic fever    rheumatic disease
    lupus erythematosus    lupus nephritis    hemophagocytic lymphohistiocytosis    behcet's disease
    ulcerative colitis    nephritis    kaposi's sarcoma    sjogren's syndrome

    2 diseases from the University of Copenhagen DISEASES database for IRF5:
    Systemic lupus erythematosus     Systemic scleroderma

    IRF5 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for IRF5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lupus erythematosus systemic 73.5 24 18843782 (2), 19043711 (2), 20112383 (2), 18063667 (2) (see all 19)
    rheumatoid arthritis 50.5 15 17133578 (2), 18408250 (2), 19228650 (2), 17599733 (2) (see all 8)
    autoimmune diseases 48.7 6 18050197 (1), 18063667 (1), 18408250 (1), 18824541 (1) (see all 5)
    virus infection 15.4 3 15308637 (2), 15556946 (1)
    tumors 0 3 18332133 (1), 15695821 (1), 20237317 (1)

    Genetic Association Database (GAD): IRF5
    Human Genome Epidemiology (HuGE) Navigator: IRF5 (94 documents)

    Export disorders for IRF5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IRF5 gene, integrated from 9 sources (see all 173):
    (articles sorted by number of sources associating them with IRF5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. (PubMed id 17599733)1, 2, 4, 9 Sigurdsson S.... Ronnblom L. (2007)
    2. An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. (PubMed id 17881657)1, 2, 4, 9 Dideberg V.... Syvaenen A.-C. (2007)
    3. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. (PubMed id 16642019)1, 2, 4, 9 Graham R.R....Alarcon-Riquelme M.E. (2006)
    4. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. (PubMed id 15657875)1, 2, 4, 9 Sigurdsson S....Syvanen A.C. (2005)
    5. Functional regulation of MyD88-activated interferon regulatory factor 5 by K63-linked polyubiquitination. (PubMed id 18824541)1, 2, 9 Balkhi M.Y....Pitha P.M. (2008)
    6. A CRM1-dependent nuclear export pathway is involved in the regulation of IRF-5 subcellular localization. (PubMed id 15556946)1, 2, 9 Lin R....Hiscott J. (2005)
    7. Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis. (PubMed id 17133578)1, 4, 9 Rueda B....Martin J. (2006)
    8. A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese patients. (PubMed id 18408250)1, 4, 9 Shimane K....Yamamoto K. (2008)
    9. The interferon regulatory factor, IRF5, is a central mediator of toll-like receptor 7 signaling. (PubMed id 15695821)1, 2, 9 Schoenemeyer A.... Golenbock D.T. (2005)
    10. Two discrete promoters regulate the alternatively spliced human interferon regulatory factor-5 isoforms. Multiple isoforms with distinct cell type-specific expression, localization, regulation, and function. (PubMed id 15805103)1, 2, 9 Mancl M.E.... Barnes B.J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3663 HGNC: 6120 AceView: IRF5 Ensembl:ENSG00000128604 euGenes: HUgn3663
    ECgene: IRF5 Kegg: 3663 H-InvDB: IRF5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IRF5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IRF5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IRF5 gene:
    Search GeneIP for patents involving IRF5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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