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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
External Ids for IRF4 Gene
- HGNC: 6119
- Entrez Gene: 3662
- Ensembl: ENSG00000137265
- OMIM: 601900
- UniProtKB: Q15306
Previous HGNC Symbols for IRF4 Gene
- MUM1
Previous GeneCards Identifiers for IRF4 Gene
- GC06U990070
- GC06P000377
- GC06P000336
Summaries 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).
Additional gene information for IRF4 Gene
- HGNC(6119)
- Entrez Gene(3662)
- Ensembl(ENSG00000137265)
- OMIM(601900)
- UniProtKB(Q15306)
- Open Targets Platform(ENSG00000137265)
- Monarch Initiative
- Search for IRF4 at DataMed
- Search for IRF4 at HumanCyc
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
Promoters and enhancers for IRF4 Gene
- 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:
-
- 6p25.3 by HGNC
- 6p25.3 by Entrez Gene
- 6p25.3 by Ensembl
IRF4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- GeneTex Anti-IRF4 / MUM1 antibody and Anti-IRF4 antibody [MUM1p]
- NSJ Bioreagents IRF4 Antibody
-
BioLegend
- IRF4 Antibody (646402)
- IRF4 Antibody (646404)
- IRF4 Antibody (646403)
- IRF4 Antibody (646405)
- IRF4 Antibody (646406)
- IRF4 Antibody (646408)
- IRF4 Antibody (646407)
- PerCP/Cyanine5.5 IRF4 Antibody (646416)
- PerCP/Cyanine5.5 IRF4 Antibody (646415)
- IRF4 Antibody (646414)
- Go-ChIP-Grade(TM) IRF4 Antibody (646411)
- Go-ChIP-Grade(TM) IRF4 Antibody (646412)
- IRF4 Antibody (646413)
- IRF4 Antibody (646409)
- IRF4 Antibody (646410)
-
Custom Antibody ServicesOriGene Antibodies for IRF4
- Novus Biologicals Antibodies for IRF4
-
Abcam antibodies for IRF4
- Invitrogen Antibodies for IRF4 (AFLGC-IRF4)
-
Custom Antibody ServicesProSci Antibodies for IRF4
-
Santa Cruz Biotechnology (SCBT) Antibodies for IRF4
- Sino Biological Antibodies for IRF4
Protein Products
- RayBiotech Recombinant Human IRF4
- Search Origene for MassSpec and Protein Over-expression Lysates for IRF4
- Origene Custom Protein Services for IRF4
-
Signalway Proteins for IRF4
-
Abcam proteins 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- Family:
-
- Belongs to the IRF family.
Function for IRF4 Gene
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
| 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 |
Phenotypes for IRF4 Gene
- MGI mutant phenotypes for IRF4:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for IRF4:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IRF4 - Select products 50% OFF >
- * IRF4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IRF4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF4
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF4
miRNA for IRF4 Gene
- miRTarBase miRNAs that target IRF4
-
- hsa-miR-125b-5p (MIRT004534)
- hsa-miR-26a-5p (MIRT168937)
- hsa-miR-26b-5p (MIRT168938)
- hsa-miR-6792-5p (MIRT169035)
- hsa-miR-15a-5p (MIRT169058)
- hsa-miR-16-5p (MIRT169059)
- hsa-miR-15b-5p (MIRT169067)
- hsa-miR-125a-5p (MIRT169069)
- hsa-miR-195-5p (MIRT169070)
- hsa-miR-4319 (MIRT169110)
- hsa-miR-6847-3p (MIRT218940)
- hsa-miR-331-5p (MIRT218949)
- hsa-miR-4503 (MIRT401842)
- hsa-miR-4678 (MIRT497329)
- hsa-miR-497-3p (MIRT497330)
- hsa-miR-4313 (MIRT504373)
- hsa-miR-1233-3p (MIRT504374)
- hsa-miR-1225-3p (MIRT504375)
- hsa-miR-6751-3p (MIRT504376)
- hsa-miR-1199-5p (MIRT504377)
- hsa-miR-1324 (MIRT504378)
- hsa-miR-3943 (MIRT504379)
- hsa-miR-574-3p (MIRT504380)
- hsa-miR-125a-3p (MIRT732831)
- hsa-miR-320c (MIRT732835)
- mmu-miR-27a-3p (MIRT733687)
- mmu-miR-30a-5p (MIRT735453)
Targeted motifs for IRF4 Gene
HOMER Transcription Factor Regulatory Elements motif IRF4
- Consensus sequence: ACTGAAACCA Submotif: canonical Cell Type: GM12878 GEO ID: GSE32465
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRF4
- Browse OriGene Inhibitory RNA Products For IRF4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF4
Clone Products
- Applied Biological Materials (abm): Clones for IRF4 - Select products 50% OFF >
- * IRF4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226642
- MR226642
- MR226642L1
- MR226642L2
- MR226642L3
- MR226642L4
- RC204876
- RC204876L1
- RC204876L2
- RC204876L3
- RC204876L4
- RC230833
- RC230833L1
- RC230833L2
- RC230833L3
- RC230833L4
- RG204876
- RG230833
- RR212616
- RR212616L3
- RR212616L4
- MR226642L1V
- MR226642L2V
- MR226642L3V
- MR226642L4V
- RC204876L1V
- RC204876L2V
- RC204876L3V
- RC204876L4V
- RC230833L1V
- RC230833L2V
- RC230833L3V
- RC230833L4V
- RR212616L3V
- RR212616L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for IRF4
- Addgene plasmids for IRF4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF4
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Nucleoplasm (3)
- Cytosol (1)
| 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 | -- |
Pathways & Interactions for IRF4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytokine Signaling in Immune system | ||
| 2 | Interferon gamma signaling | ||
| 3 | NF-kappaB Signaling | ||
| 4 | Th17 cell differentiation | ||
| 5 | Dendritic Cells Developmental Lineage Pathway | ||
Pathways by source for IRF4 Gene
8 BioSystems pathways for IRF4 Gene
7 Reactome pathways 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
3 R&D Systems pathways for IRF4 Gene
1 Cell Signaling Technology pathway for IRF4 Gene
Interacting Proteins for IRF4 Gene
Selected Interacting proteins:
Q15306-IRF4_HUMAN
ENSP00000370343
for IRF4 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for IRF4
SIGNOR curated interactions 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 |
Drugs & Compounds for IRF4 Gene
No Compound Related Data Available
Drug Products
- RayBiotech Recombinant Human IRF4
Transcripts for IRF4 Gene
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 :
-
- ENST00000380956 5314 nts (view in UCSC)
- ENST00000468485 473 nts (view in UCSC)
- ENST00000469834 346 nts (view in UCSC)
- ENST00000493114 1607 nts (view in UCSC)
- ENST00000495137 757 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IRF4 - Select products 50% OFF >
- * IRF4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IRF4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF4
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRF4
- Browse OriGene Inhibitory RNA Products For IRF4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF4
Clone Products
- Applied Biological Materials (abm): Clones for IRF4 - Select products 50% OFF >
- * IRF4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226642
- MR226642
- MR226642L1
- MR226642L2
- MR226642L3
- MR226642L4
- RC204876
- RC204876L1
- RC204876L2
- RC204876L3
- RC204876L4
- RC230833
- RC230833L1
- RC230833L2
- RC230833L3
- RC230833L4
- RG204876
- RG230833
- RR212616
- RR212616L3
- RR212616L4
- MR226642L1V
- MR226642L2V
- MR226642L3V
- MR226642L4V
- RC204876L1V
- RC204876L2V
- RC204876L3V
- RC204876L4V
- RC230833L1V
- RC230833L2V
- RC230833L3V
- RC230833L4V
- RR212616L3V
- RR212616L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for IRF4
- Addgene plasmids for IRF4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF4
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Small Pre B-Cells Hematopoietic Bone Marrow
- pre Conventional Dendritic Cells Peripheral Blood
- Plasmacytoid Dendritic cells Peripheral Blood
- T Helper Cells Thymus
- Mature B-Cells Peripheral Blood
- Adipose (Muscoskeletal System)
-
Thymus (Hematopoietic System)
- T Helper Cells Thymus
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRF4
SOURCE GeneReport for Unigene cluster for IRF4 Gene:
Hs.401013mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for IRF4
-
OriGene qPCR primer pairs and template standards for IRF4
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IRF4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IRF4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IRF4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Irf4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Irf4 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | IRF4 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | IRF4 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IRF-4 31 |
|
OneToOne | |
| IRF4 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | IRF4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | irf4 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | irf4a 30 31 |
|
OneToMany | |
| irf4b 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
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, 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
Disorders for IRF4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| skin/hair/eye pigmentation, variation in, 8 |
|
|
| marginal zone b-cell lymphoma |
|
|
| lymphatic system cancer |
|
|
| lymphatic system disease |
|
|
| mature b-cell neoplasm |
|
|
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
No data available for Genatlas for IRF4 Gene
Publications for IRF4 Gene
- 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
- 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
- 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
- IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma. (PMID: 19804451) Broderick P … Houlston R (British journal of haematology 2010) 3 23 41
- 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
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