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 Colon Lymphoma. Among its related pathways are Immune response_IL-12 signaling pathway and Type II interferon signaling (IFNG). 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 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
- Monarch Initiative
- Search for IRF4 at DataMed
- Search for IRF4 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRF4 Gene
Genomics for IRF4 Gene
GeneHancer (GH) Regulatory Elements for IRF4 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the IRF4 gene promoter:
-
- STAT1
- Sp1
- NF-kappaB1
- p53
- NF-kappaB
- IRF-7A
- Pax-4a
Regulatory Element Products
Genomic Locations for IRF4 Gene
Genomic Locations for IRF4 Gene
- chr6:391,739-411,447
- (GRCh38/hg38)
- Size:
- 19,709 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 Entrez Gene
- 6p25.3 by HGNC
- 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
- R&D Systems Antibodies for IRF4 (IRF4)
-
Custom Antibody ServicesOriGene Antibodies for IRF4
- Novus Biologicals Antibodies for IRF4
-
Abcam antibodies for IRF4
- Invitrogen Antibodies for IRF4
- GeneTex IRF4 Antibody for IRF4
-
Custom Antibody ServicesProSci Antibodies for IRF4
-
Santa Cruz Biotechnology (SCBT) Antibodies for IRF4
- Sino Biological Antibodies for IRF4
Protein Products
-
OriGene Purified Proteins for IRF4
- Search Origene for MassSpec and Protein Over-expression Lysates for IRF4
- Origene Custom Protein Services for IRF4
- Search GeneTex for Proteins for IRF4
-
Abcam proteins for IRF4
Assay Products
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for IRF4 (IRF4)
No data available for DME Specific Peptides for IRF4 Gene
Domains & Families for IRF4 Gene
Gene Families for IRF4 Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for IRF4 Gene
Suggested Antigen Peptide Sequences for IRF4 Gene
- GenScript: Design optimal peptide antigens:
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 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 12374808 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | NAS,IEA | 12374808 |
Phenotypes for IRF4 Gene
- MGI mutant phenotypes for IRF4:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for IRF4:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Dynamic nuclei (hole, folded or small irregular)
- Increased circadian period length
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Essential for multiple myeloma proliferation
- shRNA abundance <= 50%
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for IRF4
-
CRISPR Products
-
OriGene CRISPR knockouts for IRF4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF4
- genomics-online: gRNA clones - Search results for 96 available IRF4 gene related products
- Overview of 96 available IRF4 gene related products
- Applied Biological Materials CRISPR for IRF4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF4
- GenScript: Design CRISPR guide RNA sequences 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)
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
- genomics-online: shRNA clones - Search results for 96 available IRF4 gene related products
- Overview of 96 available IRF4 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for IRF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for IRF4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for IRF4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF4
- Applied Biological Materials Clones for IRF4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 | 2 |
| plasma membrane | 1 |
- Nucleoplasm (3)
| 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 | HDA | 19946888 |
Pathways & Interactions for IRF4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytokine Signaling in Immune system | ||
| 2 | Interferon gamma signaling | ||
| 3 | Th17 cell differentiation | ||
| 4 | NF-kappaB Signaling | ||
| 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
2 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
| 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 by RNA polymerase II | IEA | -- |
| GO:0006479 | protein methylation | IEA | -- |
| GO:0018022 | peptidyl-lysine methylation | IEA | -- |
Transcripts for IRF4 Gene
mRNA/cDNA for IRF4 Gene
- (3) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (202) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000380956 5331 bps (uc003msz.5)
- ENST00000468485 473 bps (uc063lje.1)
- ENST00000495137 757 bps (uc063ljf.1)
- ENST00000493114 1607 bps (uc063ljg.1)
- ENST00000469834 346 bps (uc063ljh.1)
Unigene Clusters for IRF4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for IRF4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF4
- genomics-online: gRNA clones - Search results for 96 available IRF4 gene related products
- Overview of 96 available IRF4 gene related products
- Applied Biological Materials CRISPR for IRF4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for IRF4
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 96 available IRF4 gene related products
- Overview of 96 available IRF4 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for IRF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for IRF4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for IRF4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF4
- Applied Biological Materials Clones for IRF4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - |
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
NURSA nuclear receptor signaling pathways regulating expression of IRF4 Gene:
IRF4SOURCE 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(4.6)
- Spleen(4.5)
- Blood(3.1)
- Bone marrow(3)
- Intestine(2.2)
Primer Products
-
OriGene qPCR primer pairs and template standards for IRF4
-
OriGene qPCR primer pairs 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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | IRF4 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | IRF4 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Irf4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Irf4 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | IRF4 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | IRF4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | IRF-4 34 |
|
OneToOne | |
| IRF4 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | IRF4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | irf4 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | irf4a 34 33 |
|
OneToMany | |
| irf4b 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- 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.
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs12203592 | affects, Skin/hair/eye pigmentation, variation in, 8 | 396,321(+) | C/T | intron_variant | |
| rs1000092865 | -- | 394,311(+) | A/C | intron_variant | |
| rs1000192675 | -- | 411,316(+) | G/A | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1000208382 | -- | 408,314(+) | C/T | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1000240851 | -- | 408,509(+) | A/G | 3_prime_UTR_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 |
|
|
| colon lymphoma |
|
|
| primary cutaneous diffuse large b-cell lymphoma, leg type |
|
|
| primary cutaneous marginal zone b-cell lymphoma |
|
|
| plasma cell leukemia |
|
|
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
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 22 44 58
- 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 22 58
- 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 22 44 58
- IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma. (PMID: 19804451) Broderick P … Houlston R (British journal of haematology 2010) 3 22 44 58
- 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 22 44 58
Products for IRF4 Gene
- R&D Systems Antibodies for IRF4 (IRF4)
- Browse R&D Systems for Human Recombinant Proteins
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for IRF4 (IRF4)
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for IRF4
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for IRF4
- Search Origene for MassSpec and Protein Over-expression Lysates for IRF4
- Origene Custom Protein Services for IRF4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IRF4
- Browse OriGene Inhibitory RNA Products For IRF4
- OriGene qPCR primer pairs and template standards for IRF4
- OriGene qPCR primer pairs for IRF4
- OriGene CRISPR knockouts for IRF4
- OriGene ORF clones in human for IRF4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For IRF4
- GenScript: Next-day shipping of latest version cDNA ORF clones for IRF4 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for IRF4
- GenScript Custom Assay Services for IRF4
- GenScript Custom overexpressing Cell Line Services for IRF4
- GenScript: Design CRISPR guide RNA sequences for IRF4
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for IRF4
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for IRF4
- Browse Sino Biological Assays
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for IRF4
- Novus Biologicals lysates and proteins for IRF4
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for IRF4
- Abcam proteins for IRF4
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Cyagen custom Knockout/knockin (KOKI) mouse models for IRF4
- VectorBuilder custom plasmid, inducible vectors for IRF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for IRF4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for IRF4
- antibodies-online: Search results for 143 available IRF4 Antibodies ranked by validation data
- Compare Top IRF4 Antibodies
- antibodies-online: Search results for 8 available IRF4 Elisa Kits ranked by validation data
- Compare Top IRF4 Elisa Kits
- antibodies-online: Search results for 11 available IRF4 Proteins ranked by validation data
- Compare Top IRF4 Proteins
- GeneTex IRF4 Antibody for IRF4
- Search GeneTex for Proteins for IRF4
- Santa Cruz Biotechnology (SCBT) Antibodies for IRF4
- Search Santa Cruz Biotechnology (SCBT) for IRF4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for IRF4
- Custom Antibody ServicesProSci Antibodies for IRF4
- Search for IRF4 Proteins at ProSci
- Horizon Cell Lines for IRF4
- genomics-online: cdna clones - Search results for 96 available IRF4 gene related products
- Overview of 96 available IRF4 gene related products
- orf clones - Search results for 96 available IRF4 gene related products
- Overview of 96 available IRF4 gene related products
- genomics-online: gRNA clones - Search results for 96 available IRF4 gene related products
- Overview of 96 available IRF4 gene related products
- genomics-online: primer clones - Search results for 96 available IRF4 gene related products
- Overview of 96 available IRF4 gene related products
- genomics-online: shRNA clones - Search results for 96 available IRF4 gene related products
- Overview of 96 available IRF4 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IRF4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IRF4
- GeneCopoeia miRNA 3'UTR Target clone products for IRF4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF4
Sources for IRF4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt