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Aliases for IRF4 Gene

Aliases for IRF4 Gene

  • Interferon Regulatory Factor 4 2 3 5
  • Lymphocyte-Specific Interferon Regulatory Factor 3 4
  • Multiple Myeloma Oncogene 1 3 4
  • NF-EM5 3 4
  • LSIRF 3 4
  • MUM1 3 4
  • SHEP8 3
  • IRF-4 4

External Ids for IRF4 Gene

Previous HGNC Symbols for IRF4 Gene

  • MUM1

Previous GeneCards Identifiers for IRF4 Gene

  • GC06U990070
  • GC06P000377
  • GC06P000336

Summaries for IRF4 Gene

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 Multiple Myeloma and Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type. Among its related pathways are Interferon gamma signaling and Innate Immune System. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is IRF8.

UniProtKB/Swiss-Prot for IRF4 Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRF4 Gene

Genomics for IRF4 Gene

Regulatory Elements for IRF4 Gene

Enhancers for IRF4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G000390 1.6 FANTOM5 ENCODE dbSUPER 26.1 +0.9 943 3.6 HDGF PKNOX1 WRNIP1 SIN3A NSD2 ZNF143 ZNF263 ZNF202 REST TBX21 IRF4 ENSG00000205653 DUSP22 EXOC2 GC06P000406
GH06G000219 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.8 -170.8 -170765 3.0 HNRNPUL1 FOXA2 PKNOX1 WRNIP1 ARID4B DMAP1 ZNF207 FOS MXD4 JUNB IRF4 DUSP22 PIR44572 GC06M000230 LOC285766
GH06G000225 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.5 -166.1 -166056 2.6 HDGF TBP TBL1XR1 WRNIP1 EGR1 ZNF143 RELB ETV6 IKZF2 CREM IRF4 ENSG00000205653 DUSP22 PIR44572 GC06M000230 LOC285766
GH06G000316 1.5 FANTOM5 ENCODE dbSUPER 14.3 -74.3 -74264 2.2 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 YBX1 ELK1 ZNF143 ZNF207 IRF4 ENSG00000205653 DUSP22 PIR42293 GC06P000310
GH06G000290 2 FANTOM5 Ensembl ENCODE dbSUPER 9.5 -96.7 -96713 10.0 HNRNPUL1 HDGF PKNOX1 FOXA2 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A EXOC2 IRF4 DUSP22 LOC102723922 GC06P000310
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IRF4 on UCSC Golden Path with GeneCards custom track

Promoters for IRF4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000191825 -139 401 HDGF TBP PKNOX1 TBL1XR1 SIN3A KLF17 ZNF335 EGR1 ZNF366 ZNF143

Genomic Location for IRF4 Gene

Chromosome:
6
Start:
391,739 bp from pter
End:
411,447 bp from pter
Size:
19,709 bases
Orientation:
Plus strand

Genomic View for IRF4 Gene

Genes around IRF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRF4 Gene

Proteins for IRF4 Gene

  • Protein details for IRF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15306-IRF4_HUMAN
    Recommended name:
    Interferon regulatory factor 4
    Protein Accession:
    Q15306
    Secondary Accessions:
    • Q5VUI7
    • Q99660

    Protein attributes for IRF4 Gene

    Size:
    451 amino acids
    Molecular mass:
    51772 Da
    Quaternary structure:
    • Interacts with the BATF-JUNB heterodimer. Interacts with BATF (via bZIP domain); the interaction is direct (By similarity). Interacts with SPIB and DEF6. Directly interacts with NLRP3 in the nucleus of Th2 cells; this interaction enhances IRF4 ability to bind to the IL4 promoter and is required for optimal IRF4-dependent IL4 transcription (By similarity).

    Three dimensional structures from OCA and Proteopedia for IRF4 Gene

    Alternative splice isoforms for IRF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IRF4 Gene

Post-translational modifications for IRF4 Gene

  • Phosphorylation by ROCK2 regulates IL-17 and IL-21 production.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IRF4 Gene

No data available for DME Specific Peptides for IRF4 Gene

Domains & Families for IRF4 Gene

Suggested Antigen Peptide Sequences for IRF4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15306

UniProtKB/Swiss-Prot:

IRF4_HUMAN :
  • Belongs to the IRF family.
Family:
  • Belongs to the IRF family.
genes like me logo Genes that share domains with IRF4: view

No data available for Gene Families for IRF4 Gene

Function for IRF4 Gene

Molecular function for IRF4 Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
Not induced by interferons.

Gene Ontology (GO) - Molecular Function for IRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000975 regulatory region DNA binding IEA --
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 12374808
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12374808
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS,IEA 12374808
genes like me logo Genes that share ontologies with IRF4: view
genes like me logo Genes that share phenotypes with IRF4: view

Animal Models for IRF4 Gene

MGI Knock Outs for IRF4:

Animal Model Products

Targeted motifs for IRF4 Gene
HOMER Transcription Factor Regulatory Elements motif IRF4
  • Consensus sequence: ACTGAAACCA Submotif: canonical Cell Type: GM12878 GEO ID: GSE32465

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for IRF4

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for IRF4 Gene

Localization for IRF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRF4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRF4 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for IRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000788 nuclear nucleosome IEA --
GO:0005634 nucleus IC,IEA 12374808
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with IRF4: view

Pathways & Interactions for IRF4 Gene

genes like me logo Genes that share pathways with IRF4: view

SIGNOR curated interactions for IRF4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006479 protein methylation IEA --
GO:0018022 peptidyl-lysine methylation IEA --
genes like me logo Genes that share ontologies with IRF4: view

Transcripts for IRF4 Gene

Unigene Clusters for IRF4 Gene

Interferon regulatory factor 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for IRF4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IRF4 Gene

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: - -
SP6:
SP7: - -
SP8: - - - -
SP9: -

Relevant External Links for IRF4 Gene

GeneLoc Exon Structure for
IRF4
ECgene alternative splicing isoforms for
IRF4

Expression for IRF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IRF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IRF4 Gene

This gene is overexpressed in Stomach (36.0), Peripheral blood mononuclear cells (14.6), Lymph node (10.3), and Blymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IRF4 Gene



Protein tissue co-expression partners for IRF4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IRF4 Gene:

IRF4

SOURCE GeneReport for Unigene cluster for IRF4 Gene:

Hs.401013

mRNA Expression by UniProt/SwissProt for IRF4 Gene:

Q15306-IRF4_HUMAN
Tissue specificity: Lymphoid cells.

Evidence on tissue expression from TISSUES for IRF4 Gene

  • Skin(4.8)
  • Lymph node(4.6)
  • Spleen(4.5)
  • Blood(3.1)
  • Bone marrow(2.9)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with IRF4: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for IRF4 Gene

Orthologs for IRF4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IRF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IRF4 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia IRF4 34 35
  • 89.84 (n)
cow
(Bos Taurus)
Mammalia IRF4 34 35
  • 89.36 (n)
rat
(Rattus norvegicus)
Mammalia Irf4 34
  • 88.67 (n)
mouse
(Mus musculus)
Mammalia Irf4 34 16 35
  • 88.15 (n)
oppossum
(Monodelphis domestica)
Mammalia IRF4 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IRF4 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves IRF-4 35
  • 85 (a)
OneToOne
IRF4 34
  • 80.77 (n)
lizard
(Anolis carolinensis)
Reptilia IRF4 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia irf4 34
  • 69.75 (n)
zebrafish
(Danio rerio)
Actinopterygii irf4a 34 35
  • 66.59 (n)
irf4b 35
  • 54 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToMany
Species where no ortholog for IRF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IRF4 Gene

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

Paralogs for IRF4 Gene

Paralogs for IRF4 Gene

(7) SIMAP similar genes for IRF4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with IRF4: view

Variants for IRF4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IRF4 Gene

IRF4_HUMAN-Q15306
Genetic variants in IRF4 define the skin/hair/eye pigmentation variation locus 8 (SHEP8) [MIM:611724]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.

Sequence variations from dbSNP and Humsavar for IRF4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs12203592 other 396,321(+) GAAGG(C/T)AAATT intron-variant
rs1000092865 -- 394,311(+) CAGAA(A/C)ATGTG intron-variant
rs1000192675 -- 411,316(+) AAACT(A/G)AGGTA nc-transcript-variant, utr-variant-3-prime
rs1000208382 -- 408,314(+) TGAAG(C/T)CGTGC nc-transcript-variant, utr-variant-3-prime
rs1000240851 -- 408,509(+) CTACA(A/G)TCTAG nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for IRF4 Gene

Variant ID Type Subtype PubMed ID
dgv10261n54 CNV loss 21841781
dgv5869n100 CNV gain 25217958
dgv5872n100 CNV gain 25217958
dgv5884n100 CNV gain 25217958
dgv736n27 CNV loss 19166990
dgv990n67 CNV gain 20364138
esv2472692 CNV deletion 19546169
esv2671956 CNV deletion 23128226
esv2759401 CNV gain+loss 17122850
esv3607835 CNV loss 21293372
esv3607852 CNV loss 21293372
nsv1028946 CNV gain 25217958
nsv428134 CNV gain 18775914
nsv462608 CNV loss 19166990
nsv509115 CNV insertion 20534489
nsv600779 CNV loss 21841781
nsv600780 CNV loss 21841781
nsv600781 CNV gain 21841781
nsv820552 CNV duplication 20802225
nsv821644 CNV gain 15273396
nsv823390 CNV gain 20364138
nsv830568 CNV gain+loss 17160897
nsv830569 CNV gain 17160897

Variation tolerance for IRF4 Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.85; 48.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IRF4 Gene

Human Gene Mutation Database (HGMD)
IRF4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRF4

Disorders for IRF4 Gene

MalaCards: The human disease database

(16) MalaCards diseases for IRF4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multiple myeloma
  • myeloma, multiple amyloidosis, systemic, included
primary cutaneous diffuse large b-cell lymphoma, leg type
  • pcdlbcl,lt
primary cutaneous marginal zone b-cell lymphoma
  • pcmzl
marginal zone b-cell lymphoma
  • marginal zone lymphoma
b-cell lymphomas
  • b-cell lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search IRF4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IRF4_HUMAN
  • 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. {ECO:0000269 PubMed:9326949}. 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.

Relevant External Links for IRF4

Genetic Association Database (GAD)
IRF4
Human Genome Epidemiology (HuGE) Navigator
IRF4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IRF4
genes like me logo Genes that share disorders with IRF4: view

No data available for Genatlas for IRF4 Gene

Publications for IRF4 Gene

  1. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. (PMID: 18483556) Han J. … Hunter D.J. (PLoS Genet. 2008) 3 4 22 46 64
  2. Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25. (PMID: 8921401) Grossman A. … Mak T.W. (Genomics 1996) 2 3 4 22 64
  3. An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males. (PMID: 19897031) Do T.N. … Dorak M.T. (Biochim. Biophys. Acta 2010) 3 22 46 64
  4. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PMID: 19710684) Duffy D.L. … Montgomery G.W. (J. Invest. Dermatol. 2010) 3 22 46 64
  5. IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma. (PMID: 19804451) Broderick P. … Houlston R. (Br. J. Haematol. 2010) 3 22 46 64

Products for IRF4 Gene

  • Addgene plasmids for IRF4

Sources for IRF4 Gene

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