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IRF5 Gene

protein-coding   GIFtS: 62
GCID: GC07P128577

Interferon Regulatory Factor 5

  See IRF5-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 systemic lupus erythematosus 10, and inflammatory bowel disease 14. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for IRF5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
1 PDB 3D structure from and Proteopedia for IRF5:
3DSH (3D)    
Secondary accessions: A4D1J8 A8DUA8 A8DUA9 E7EQ16 E7EW54 Q1A7B4 Q64GA9 Q64GB1 Q64GB2 Q6RCM8
Q9BQF0
Alternative splicing: 6 isoforms:  Q13568-1   Q13568-2   Q13568-3   Q13568-4   Q13568-5   Q13568-6   

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

Explore proteomics data for IRF5 at MOPED

Post-translational modifications: 

  • 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 transcription1
  • 'Lys-63'-linked polyubiquitination by TRAF6 is required for activation1
  • Ubiquitination2 at Lys411, Lys412
  • Modification sites at PhosphoSitePlus

  • See IRF5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    IRF5 Human Recombinant Protein Products:

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    Novus Biologicals IRF5 Proteins
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for IRF5

     
    Search eBioscience for Proteins for IRF5 

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    EMD Millipore Mono- and Polyclonal Antibodies for the study of IRF5
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    Search eBioscience for ELISAs for IRF5 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected 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


    Find genes that share domains with IRF5           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with IRF5           About GenesLikeMe


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

    Find genes that share phenotypes with IRF5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Irf5tm1Ttg for IRF5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IRF5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    miRTarBase miRNAs that target IRF5:
    hsa-mir-22-3p (MIRT007158)

    Block miRNA regulation of human, mouse, rat IRF5 using miScript Target Protectors
    7 qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for IRF5
    Predesigned siRNA for gene silencing in human, mouse, rat IRF5

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): IRF5 (NM_032643)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IRF5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IRF5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IRF5_HUMAN, Q13568: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion3
    peroxisome2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with IRF5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for IRF5 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Toll-like receptor signaling pathway
    Toll-like receptor signaling pathway0.94
    Regulation of toll-like receptor signaling pathway0.93
    Toll-like receptor signaling pathway0.94
    2Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    3Immune response IFN alpha beta signaling pathway
    Interferon alpha/beta signaling0.43
    4Apoptosis (WikiPathways)
    Apoptosis0.38
    5Senescence and Autophagy
    Senescence and Autophagy


    Find genes that share SuperPaths with IRF5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    5 BioSystems Pathways for IRF5
        Apoptosis
    Senescence and Autophagy
    Toll-like receptor signaling pathway
    Direct p53 effectors
    Regulation of toll-like receptor signaling pathway

    2 Reactome Pathways for IRF5
        Interferon alpha/beta signaling
    Interferon gamma signaling


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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for IRF5

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

    Selected Interacting proteins for IRF5 (Q135681, 3 ENSP000003497704) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    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): Selected biological process terms (see all 13):    About this table

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

    Find genes that share ontologies with IRF5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with IRF5           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
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    7 qRT-PCR 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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      QuantiFast Probe-based Assays in human, mouse, rat IRF5

    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 

    Selected AceView cDNA sequences (see all 96):

    AI356449 AL713733 NM_032643 AI861864 AI028035 AI341354 CR610038 AW438874 
    AI769697 BC004201 CA774847 BC004139 AI985567 AY504946 BF223643 CD672903 
    AY504947 AW073783 AY693666 NM_002200 CA946780 BF939972 AI086403 AY693665 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    IRF5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IRF5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521181
        Pathway & Disease-focused RT2 Profiler 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

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat IRF5
    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IRF5 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Irf51 , 5 interferon regulatory factor 51, 5 85.22(n)1
    87.5(a)1
      6 (12.36 cM)5
    270561  NM_001252382.11  NP_001239311.11 
     295266255 
    chicken
    (Gallus gallus)
    Aves IRF51 interferon regulatory factor 5 65.05(n)
    60.22(a)
      430409  NM_001031587.1  NP_001026758.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    24(a)
    many ↔ many
    6(80616269-80634298)
    zebrafish
    (Danio rerio)
    Actinopterygii irf56
    interferon regulatory factor 5
    52(a)
    1 ↔ 1
    4(12670131-12679345) ENSDARG00000045681


    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)
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    Paralogs for IRF5 gene
    IRF82  IRF22  IRF32  IRF42  IRF92  IRF12  IRF72  IRF62  
    17 SIMAP similar genes for IRF5 using alignment to 13 protein entries:     IRF5_HUMAN (see all proteins):
    COQ5    MST132    PFKFB3    TUBA1C    FLJ00047    NELFA
    IRF6    SUMO1    IRF8    SEC14L3    IRF2    IRF4
    IRF9    IRF1    IRF3    HBP1    AAMDC

    Find genes that share paralogs with IRF5           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IRF5 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 12 diseases for IRF5:    
    About MalaCards
    systemic lupus erythematosus 10    inflammatory bowel disease 14    macrophage activation syndrome    subacute cutaneous lupus erythematosus
    cutaneous lupus erythematosus    scleroderma    primary biliary cirrhosis    diffuse scleroderma
    limited scleroderma    systemic scleroderma    hemophagocytic lymphohistiocytosis    systemic lupus erythematosus

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

    Find genes that share disorders with IRF5           About GenesLikeMe

    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)
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    PubMed articles for IRF5 gene, integrated from 10 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. (Arthritis Rheum. 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. (Hum. Mol. Genet. 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. (Nat. Genet. 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....Syvaenen A.-C. (Am. J. Hum. Genet. 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. (Mol. Cell. Biol. 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. (J. Biol. Chem. 2005)
    7. Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis. (PubMed id 17133578)1, 4, 9 Rueda B....MartA-n J. (Arthritis Rheum. 2006)
    8. A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. (PubMed id 18408250)1, 4, 9 Shimane K....Yamamoto K. (Ann. Rheum. Dis. 2009)
    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. (J. Biol. Chem. 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. (J. Biol. Chem. 2005)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 3663 HGNC: 6120 AceView: IRF5 Ensembl:ENSG00000128604 euGenes: HUgn3663
    ECgene: IRF5 Kegg: 3663 H-InvDB: IRF5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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