IRF4 Gene (Protein Coding)

Interferon Regulatory Factor 4

GC06P000391
GIFtS:
43
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 ne... See more...

Aliases for IRF4 Gene

Aliases for IRF4 Gene

  • Interferon Regulatory Factor 4 2 3 4 5
  • LSIRF 2 3 4
  • Lymphocyte-Specific Interferon Regulatory Factor 3 4
  • Multiple Myeloma Oncogene 1 3 4
  • NF-EM5 3 4
  • MUM1 3 4
  • SHEP8 3
  • IRF-4 4
  • IRF4 5

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 Skin/Hair/Eye Pigmentation, Variation In, 8 and Marginal Zone B-Cell Lymphoma. Among its related pathways are Apoptosis Modulation and Signaling and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is IRF8.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for IRF4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRF4 Gene

Genomics for IRF4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for IRF4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J000390 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 626.1 +1.0 985 3.7 PRDM10 ZNF692 POLR2A ZNF7 BACH1 LARP7 ZNF143 RELA SMAD5 EZH2 IRF4 HSALNG0047286 ENSG00000217929 ENSG00000205653 DUSP22 EXOC2 HUS1B
GH06J000389 Enhancer 0.9 ENCODE dbSUPER 600.7 -1.9 -1936 0.2 SP1 POLR2A BACH1 SMAD5 RAD21 TCF12 TRIM22 RELA RELB RUNX3 IRF4 ENSG00000205653 HSALNG0047286 lnc-EXOC2-14 DUSP22
GH06J000290 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.5 -96.7 -96726 10 SP1 HNRNPL CREB1 GATAD2A PRDM10 TFE3 SOX13 IKZF1 POLR2A ZNF692 DUSP22 EXOC2 IRF4 ENSG00000287265 LOC102723922 piR-49294
GH06J000309 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.3 -77.7 -77692 9.5 SP1 ATF7 TEAD4 PRDM10 ZNF629 REST POLR2A BACH1 LARP7 STAT3 IRF4 ENSG00000205653 DUSP22 piR-49294 ENSG00000287265
GH06J000219 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 12.8 -170.8 -170778 3 IKZF1 POLR2A BACH1 JUND LARP7 STAT3 RELA RBFOX2 SMAD5 IKZF2 IRF4 DUSP22 lnc-DUSP22-3 lnc-EXOC2-17 ENSG00000263667
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRF4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRF4

Top Transcription factor binding sites by QIAGEN in the IRF4 gene promoter:
  • IRF-7A
  • NF-kappaB
  • NF-kappaB1
  • p53
  • Pax-4a
  • Sp1
  • STAT1

Genomic Locations for IRF4 Gene

Genomic Locations for IRF4 Gene
chr6:391,752-411,443
(GRCh38/hg38)
Size:
19,692 bases
Orientation:
Plus strand
chr6:391,739-411,447
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for IRF4 Gene

Proteins for IRF4 Gene

Products:

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  2. Protein
  3. Assay

  • 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

Protein Expression for IRF4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for IRF4

No data available for DME Specific Peptides for IRF4 Gene

Domains & Families for IRF4 Gene

Gene Families for IRF4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for IRF4 Gene

InterPro:
Blocks:
  • Interferon regulatory factor
ProtoNet:

Suggested Antigen Peptide Sequences for IRF4 Gene

GenScript: Design optimal peptide antigens:
  • NF-EM5 (IRF4_HUMAN)

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

Function for IRF4 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for IRF4 Gene

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.
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)

Phenotypes From GWAS Catalog for IRF4 Gene

Gene Ontology (GO) - Molecular Function for IRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12374808
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 12374808
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA,NAS 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

CRISPR 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF4

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

Nucleus.

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 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000788 nuclear nucleosome IEA --
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,IC 12374808
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
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

Pathways by source for IRF4 Gene

1 KEGG pathway for IRF4 Gene
2 GeneGo (Thomson Reuters) pathways for IRF4 Gene
  • Cytokine production by Th17 cells in CF (Mouse model)
  • Immune response_IL-12 signaling pathway
1 Cell Signaling Technology pathway for IRF4 Gene

SIGNOR curated interactions for IRF4 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for IRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0034122 negative regulation of toll-like receptor signaling pathway IEA --
GO:0042110 T cell activation NAS 12374808
genes like me logo Genes that share ontologies with IRF4: view

Drugs & Compounds for IRF4 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for IRF4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IRF4 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF4

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

Expression for IRF4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for IRF4 Gene
mRNA expression by GTEx for IRF4 GenemRNA expression by BioGPS 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 and MOPED for IRF4 Gene



Protein tissue co-expression partners for IRF4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Spleen(4.7)
  • Blood(3.5)
  • Bone marrow(3.4)
  • Intestine(3.1)
  • Liver(2.5)
  • Lung(2.4)
  • Nervous system(2.1)
  • Stomach(2.1)
  • Heart(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with IRF4: view

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 30 31
  • 99.7 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IRF4 30 31
  • 89.84 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia IRF4 30 31
  • 89.36 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Irf4 30
  • 88.67 (n)
Mouse
(Mus musculus)
 Mammalia Irf4 30 17 31
  • 88.15 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia IRF4 31
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia IRF4 31
  • 55 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves IRF-4 31
  • 85 (a)
 OneToOne
IRF4 30
  • 80.77 (n)
Lizard
(Anolis carolinensis)
 Reptilia IRF4 31
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia irf4 30
  • 69.75 (n)
Zebrafish
(Danio rerio)
 Actinopterygii irf4a 30 31
  • 66.59 (n)
 OneToMany
irf4b 31
  • 54 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 22 (a)
 OneToMany
Species where no ortholog for IRF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IRF4: view image

Paralogs for IRF4 Gene

Paralogs for IRF4 Gene

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

  • IRF4_HUMAN
  • F2Z3D5_HUMAN
genes like me logo Genes that share paralogs with IRF4: view

Variants for IRF4 Gene

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  1. SNP Genotyping and Copy Number Assay

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRF4 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
715875 Likely Benign: not provided 401,464(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
787537 Benign: not provided 401,641(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
792028 Benign: not provided 395,889(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs12203592 Affects: Skin/hair/eye pigmentation, variation in, 8 396,321(+) C/T INTRON_VARIANT
rs901736609 Uncertain Significance: Skin/hair/eye pigmentation, variation in, 1 401,767(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for IRF4 Gene

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)

Additional Variant Information for IRF4 Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for IRF4 Gene

MalaCards: The human disease database

(69) MalaCards diseases for IRF4 Gene - From: OMIM, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
skin/hair/eye pigmentation, variation in, 8
  • shep8
marginal zone b-cell lymphoma
  • marginal zone lymphoma
lymphatic system cancer
lymphatic system disease
  • adenopathy
mature b-cell neoplasm
  • mature b-cell lymphocytic neoplasm
- 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.

Additional Disease Information for IRF4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 DJ (PLoS genetics 2008) 3 4 23 41
  2. Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25. (PMID: 8921401) Grossman A … Mak TW (Genomics 1996) 2 3 4 23
  3. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PMID: 19710684) Duffy DL … Montgomery GW (The Journal of investigative dermatology 2010) 3 23 41
  4. IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma. (PMID: 19804451) Broderick P … Houlston R (British journal of haematology 2010) 3 23 41
  5. 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 TN … Dorak MT (Biochimica et biophysica acta 2010) 3 23 41

ExternalLinks

View latest publications for IRF4 gene in Mastermind

Products for IRF4 Gene

  • Addgene plasmids for IRF4
  • Signalway Proteins for IRF4

Sources for IRF4 Gene