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IRF4 Gene

protein-coding   GIFtS: 65
GCID: GC06P000391

Interferon Regulatory Factor 4


(Previous symbol: MUM1)
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)
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Aliases
Interferon Regulatory Factor 41 2     Multiple Myeloma Oncogene 12 3
MUM11 2 3     NF-EM52 3
LSIRF2 3 5     IRF-43
Lymphocyte-Specific Interferon Regulatory Factor2 3     

External Ids:    HGNC: 61191   Entrez Gene: 36622   Ensembl: ENSG000001372657   OMIM: 6019005   UniProtKB: Q153063   

Export aliases for IRF4 gene to outside databases

Previous GC identifers: GC06U990070 GC06P000377 GC06P000336


(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 IRF4 Gene:
The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription
factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the
regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes.
This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is
central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene
and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript
variants have been found for this gene. (provided by RefSeq, Aug 2010)

GeneCards Summary for IRF4 Gene:
IRF4 (interferon regulatory factor 4) is a protein-coding gene. Diseases associated with IRF4 include diffuse large b-cell lymphoma, and primary cutaneous anaplastic large cell lymphoma. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is IRF8.

UniProtKB/Swiss-Prot: IRF4_HUMAN, Q15306
Function: Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I
promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in
ISRE-targeted signal transduction mechanisms specific to lymphoid cells. Involved in CD8(+) dendritic cell
differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of
AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of
BATF and IRF4 and activation of genes (By similarity)

Gene Wiki entry for IRF4 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:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IRF4 gene promoter:
         STAT1   p53   Sp1   IRF-7A   Pax-4a   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IRF4 promoter sequence
   Search Chromatin IP Primers for IRF4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IRF4


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

Entrez Gene cytogenetic band: 6p25-p23   Ensembl cytogenetic band:  6p25.3   HGNC cytogenetic band: 6p25-p23

IRF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IRF4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P000391:  view genomic region     (about GC identifiers)

Start:
391,739 bp from pter      End:
411,447 bp from pter
Size:
19,709 bases      Orientation:
plus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: IRF4_HUMAN, Q15306 (See protein sequence)
Recommended Name: Interferon regulatory factor 4  
Size: 451 amino acids; 51772 Da
Subunit: Interacts with the BATF-JUNB heterodimer. Interacts with BATF (via bZIP domain); the interaction is
direct (By similarity). Interacts with SPIB and DEF6
1 PDB 3D structure from and Proteopedia for IRF4:
2DLL (3D)    
Secondary accessions: Q5VUI7 Q99660
Alternative splicing: 2 isoforms:  Q15306-1   Q15306-2   

Explore the universe of human proteins at neXtProt for IRF4: NX_Q15306

Explore proteomics data for IRF4 at MOPED

Post-translational modifications: 

  • Phosphorylation by ROCK2 regulates IL-17 and IL-21 production (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See IRF4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182215.1  NP_002451.2  

    ENSEMBL proteins: 
     ENSP00000370343   ENSP00000436094  
    Reactome Protein details: Q15306

    IRF4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for IRF4


    (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 Q15306

    ProtoNet protein and cluster: Q15306

    1 Blocks protein domain: IPB001346 Interferon regulatory factor

    UniProtKB/Swiss-Prot: IRF4_HUMAN, Q15306
    Similarity: Belongs to the IRF family
    Similarity: Contains 1 IRF tryptophan pentad repeat DNA-binding domain


    IRF4 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRF4_HUMAN, Q15306
    Function: Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I
    promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in
    ISRE-targeted signal transduction mechanisms specific to lymphoid cells. Involved in CD8(+) dendritic cell
    differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of
    AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of
    BATF and IRF4 and activation of genes (By similarity)
    Induction: Not induced by interferons

         Genatlas biochemistry entry for IRF4:
    interferon regulatory factor 4,lymphocyte-specific, controlling the B-cell proliferation and
    differentiation,protooncogene deregulated in multiple myeloma with translocation t(6;14)(p25;q32) (see MUM1)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000975regulatory region DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS12374808
    GO:0005515protein binding IPI--
    GO:0008134transcription factor binding NAS12374808
    GO:0016279protein-lysine N-methyltransferase activity IEA--
         
    IRF4 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for IRF4:
     Essential for multiple myeloma  Increased circadian rhythm amp 

         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Irf4):
     hematopoietic system  immune system  tumorigenesis 

    IRF4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for IRF4: Irf4tm1Mak Irf4tm1.1Rdf

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IRF4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IRF4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IRF4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IRF4

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  ACTGAAACCA 

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    Selected qRT-PCR Assays for microRNAs that regulate IRF4 (see all 34):
    hsa-miR-15a hsa-miR-513a-5p hsa-miR-128 hsa-miR-30d hsa-miR-3171 hsa-miR-424 hsa-miR-30a hsa-miR-186
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF4


    (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
    IRF4_HUMAN, Q15306: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000788nuclear nucleosome IEA--
    GO:0005634nucleus IC12374808
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    IRF4 for ontologies           About GeneDecksing


    (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 IRF4 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    2Cytokine production by Th17 cells in CF
    Cytokine production by Th17 cells in CF Mouse model 0.72
    3Immune response IFN alpha beta signaling pathway
    Interferon alpha/beta signaling0.43
    4Apoptosis (WikiPathways)
    Apoptosis0.38
    5Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for IRF4
        IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types


    1 Cell Signaling Technology (CST) Pathway for IRF4
        NF-kappaB Signaling

    2 GeneGo (Thomson Reuters) Pathways for IRF4
        Immune response IL-12 signaling pathway
    Cytokine production by Th17 cells in CF (Mouse model)

    5 BioSystems Pathways for IRF4
        Apoptosis
    Type II interferon signaling (IFNG)
    TCR Signaling Pathway
    IL4-mediated signaling events
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes

    2 Reactome Pathways for IRF4
        Interferon alpha/beta signaling
    Interferon gamma signaling



    IRF4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IRF4 (see all 10): 
              Lung Cancer in human mouse rat
              Interferons & Receptors in human mouse rat
              Inflammasomes in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IRF4

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

    Selected Interacting proteins for IRF4 (Q153061, 3 ENSP000003703434) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YTHDC2Q9H6S01, 3, ENSP000001618634EBI-751345,EBI-1057466 I2D: score=1 STRING: ENSP00000161863
    IRAK1P516171, 3, ENSP000003589974EBI-751345,EBI-358664 I2D: score=1 STRING: ENSP00000358997
    IKBKAPO951631, 3, ENSP000003637794EBI-751345,EBI-347559 I2D: score=1 STRING: ENSP00000363779
    TLK2Q86UE81, 3, ENSP000002757804EBI-751345,EBI-1047967 I2D: score=1 STRING: ENSP00000275780
    FKBP4Q027903, ENSP000000010084I2D: score=5 STRING: ENSP00000001008
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006479protein methylation ----
    GO:0018022peptidyl-lysine methylation ----
    GO:0019221cytokine-mediated signaling pathway TAS--

    IRF4 for ontologies           About GeneDecksing



    (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 IRF4



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IRF4 gene (2 alternative transcripts): 
    NM_001195286.1  NM_002460.3  

    Unigene Cluster for IRF4:

    Interferon regulatory factor 4
    Hs.401013  [show with all ESTs]
    Unigene Representative Sequence: NR_046000
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380956(uc010jne.2 uc003msz.4 uc003mtb.4 uc021ykl.1 uc003mta.4)
    ENST00000468485 ENST00000495137 ENST00000493114(uc003mtc.1) ENST00000469834

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate IRF4 (see all 34):
    hsa-miR-15a hsa-miR-513a-5p hsa-miR-128 hsa-miR-30d hsa-miR-3171 hsa-miR-424 hsa-miR-30a hsa-miR-186
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    Additional mRNA sequence: 

    AK310149.1 BC015752.1 NR_046000.1 U52682.1 U63738.1 

    7 DOTS entries:

    DT.95373806  DT.415498  DT.101954966  DT.100027176  DT.121369596  DT.121369597  DT.101967303 

    Selected AceView cDNA sequences (see all 202):

    BM466161 BX112230 BM472499 AI125911 BX646222 BG230623 BQ213771 BP338226 
    AA377285 AI224170 BQ051858 BF512477 AW451022 AW452687 AI041586 AA777107 
    CD521701 AW136209 CA309986 BG768296 AI435897 BQ425272 BF510753 BM551611 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IRF4 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for IRF4

    (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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    IRF4 expression in normal human tissues (normalized intensities)      IRF4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IRF4 Expression
    About this image


    IRF4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 5 entries
             Mature B-Cells Peripheral Blood
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
    IRF4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IRF4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.401013

    UniProtKB/Swiss-Prot: IRF4_HUMAN, Q15306
    Tissue specificity: Lymphoid cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IRF4 (see all 10): 
              Lung Cancer in human mouse rat
              Interferons & Receptors in human mouse rat
              Inflammasomes in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat IRF4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF4

    (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 IRF4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Irf41 , 5 interferon regulatory factor 41, 5 88.15(n)1
    92.44(a)1
      13 (13.28 cM)5
    163641  NM_013674.11  NP_038702.11 
     307492265 
    chicken
    (Gallus gallus)
    Aves IRF41 interferon regulatory factor 4 80.77(n)
    85.98(a)
      374179  NM_204299.2  NP_989630.1 
    lizard
    (Anolis carolinensis)
    Reptilia IRF46
    interferon regulatory factor 4
    77(a)
    1 ↔ 1
    GL343247.1(765135-801451)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia irf41 interferon regulatory factor 4 69.75(n)
    73.44(a)
      100490143  XM_002936418.1  XP_002936464.1 
    zebrafish
    (Danio rerio)
    Actinopterygii irf4a1 interferon regulatory factor 4a 66.59(n)
    65.89(a)
      100002070  NM_001122710.1  NP_001116182.1 


    ENSEMBL Gene Tree for IRF4 (if available)
    TreeFam Gene Tree for IRF4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IRF4 gene
    IRF82  IRF22  IRF52  IRF32  IRF92  IRF12  IRF72  IRF62  
    7 SIMAP similar genes for IRF4 using alignment to 2 protein entries:     IRF4_HUMAN (see all proteins):
    IRF9    IRF1    IRF2    IRF8    IRF5    IRF3
    IRF6

    IRF4 for paralogs           About GeneDecksing



    (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 IRF4 (see all 577)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1437035281,2
    --269108(+) CCCCCC/TGTCTC 3 -- int10--------
    rs1384362781,2
    --269142(+) CCTCTC/TCTGCA 3 -- int10--------
    rs750907261,2
    C--273450(+) ACACAC/TATTTG 3 -- int10--------
    rs1917354541,2
    --331836(+) TGAAGA/GTTAGC 3 -- us2k10--------
    rs1824647291,2
    --332063(+) TGAGGA/GAAAGG 3 -- us2k10--------
    rs68993341,2
    C,F,H--332200(+) AAATCT/CGTGAA 3 -- us2k119Minor allele frequency- C:0.08NS EA NA WA CSA 2226
    rs1414790511,2
    --332286(+) TAATGG/TAAAAC 3 -- us2k10--------
    rs1149072351,2
    F--332431(+) ACATTG/TACCCA 3 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1867962651,2
    --332643(+) TTTGCA/GATTAA 3 -- us2k10--------
    rs27973051,2
    C,F,A,H--332753(+) GCCCAC/TCTCGG 3 -- us2k110Minor allele frequency- T:0.41NA WA CSA EA 372

    HapMap Linkage Disequilibrium report for IRF4 (391739 - 411447 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for IRF4 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671956CNV Deletion23128226
    esv2472692CNV Deletion19546169
    nsv820552CNV Duplication20802225
    nsv509115CNV Insertion20534489
    dgv6414n71CNV Loss21882294
    nsv462608CNV Loss19166990
    dgv736n27CNV Loss19166990
    nsv823390CNV Gain20364138
    nsv821644CNV Gain15273396
    nsv428134CNV Gain18775914

    Human Gene Mutation Database (HGMD): IRF4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IRF4
    DNA2.0 Custom Variant and Variant Library Synthesis for IRF4

    (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.)
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    OMIM gene information: 601900   
    OMIM disorders: 254500  
    UniProtKB/Swiss-Prot: IRF4_HUMAN, Q15306
  • Multiple myeloma (MM) [MIM:254500]: A malignant tumor of plasma cells usually arising in the bone marrow
    and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and
    anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord
    compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high
    prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of
    diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. Note=The gene
    represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving IRF4 has
    been found in multiple myeloma. Translocation t(6;14)(p25;q32) with the IgH locus

  • Selected diseases for IRF4 (see all 60):    About MalaCards
    diffuse large b-cell lymphoma    primary cutaneous anaplastic large cell lymphoma    multiple myeloma    primary cutaneous diffuse large b-cell lymphoma, leg type
    myeloma    primary cutaneous marginal zone b-cell lymphoma    plasmablastic lymphoma    marginal zone b-cell lymphoma
    richter's syndrome    macroglobulinemia    waldenstrom macroglobulinemia    b-cell lymphomas
    malt lymphoma    plasma cell leukemia    lymphomatoid papulosis    primary effusion lymphoma
    plasmacytoma    peripheral t-cell lymphoma    cutaneous malignant melanoma    progressive supranuclear palsy

    2 diseases from the University of Copenhagen DISEASES database for IRF4:
    Lymphoma     Multiple myeloma

    IRF4 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for IRF4 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma b-cell 76.8 14 15710572 (2), 15959530 (2), 20174727 (1), 17149956 (1) (see all 10)
    lymphoma 58.3 10 18417578 (2), 17138822 (1), 19103865 (1), 17517757 (1) (see all 9)
    leukemia t-cell 55.6 6 11749693 (1), 12218129 (1), 15684621 (1), 10714679 (1)
    lymphoma non-hodgkins 46.8 4 19396635 (1), 19897031 (1), 12594241 (1)
    plasmacytoma 46.7 3 15507667 (1), 18089822 (1)
    myeloma 45.7 8 18568025 (4), 18987657 (1), 18761464 (1)
    hodgkin disease 44.8 10 18410414 (3), 19821826 (2), 19804451 (1), 10706878 (1)
    malt lymphoma 38.1 1 15710572 (1)
    lymphoma follicular 38 3 17296585 (2)
    paraparesis tropical spastic 32.6 1 11846984 (1)

    Genetic Association Database (GAD): IRF4
    Human Genome Epidemiology (HuGE) Navigator: IRF4 (28 documents)

    Export disorders for IRF4 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 IRF4 gene, integrated from 10 sources (see all 228):
    (articles sorted by number of sources associating them with IRF4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25. (PubMed id 8921401)1, 2, 3, 9 Grossman A.... Mak T.W. (Genomics 1996)
    2. Interferon regulatory factor 4 is involved in Epstein-Barr virus-mediated transformation of human B lymphocytes. (PubMed id 18417578)1, 3, 9 Xu D....Zhang L. (J. Virol. 2008)
    3. Relationship between interferon regulatory factor 4 genetic polymorphisms, measures of sun sensitivity and risk for non-Hodgkin lymphoma. (PubMed id 19396635)1, 4, 9 Gathany A.H....Wang S.S. (amp 2009)
    4. An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males. (PubMed id 19897031)1, 4, 9 Do T.N....Dorak M.T. (Biochim. Biophys. Acta 2010)
    5. IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma. (PubMed id 19804451)1, 4, 9 Broderick P....Houlston R. (Br. J. Haematol. 2010)
    6. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PubMed id 19710684)1, 4, 9 Duffy D.L....Montgomery G.W. (J. Invest. Dermatol. 2010)
    7. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. (PubMed id 18483556)1, 4, 9 Han J....Hunter D.J. (PLoS Genet. 2008)
    8. Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myeloma. (PubMed id 9326949)1, 2, 9 Iida S.... Dalla-Favera R. (Nat. Genet. 1997)
    9. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. (PubMed id 21685912)1, 4 HAPglinger G.U....Schellenberg G.D. (Nat. Genet. 2011)
    10. Multiple common variants for celiac disease influencing immune gene expression. (PubMed id 20190752)1, 4 Dubois P.C....van Heel D.A. (Nat. Genet. 2010)

    (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: 3662 HGNC: 6119 AceView: IRF4 Ensembl:ENSG00000137265 euGenes: HUgn3662
    ECgene: IRF4 H-InvDB: IRF4

    (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 IRF4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IRF4 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 IRF4 gene:
    Search GeneIP for patents involving IRF4

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



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