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Protein IRF4 PDB 2dll.png
Available structures
PDBOrtholog search: PDBe RCSB
AliasesIRF4, LSIRF, MUM1, NF-EM5, SHEP8, interferon regulatory factor 4
External IDsOMIM: 601900 MGI: 1096873 HomoloGene: 1842 GeneCards: IRF4
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for IRF4
Genomic location for IRF4
Band6p25.3Start391,752 bp[1]
End411,443 bp[1]
RNA expression pattern
PBB GE IRF4 216986 s at fs.png

PBB GE IRF4 216987 at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 6: 0.39 – 0.41 MbChr 13: 30.75 – 30.77 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Interferon regulatory factor 4 also known as MUM1 is a protein that in humans is encoded by the IRF4 gene,[5][6][7] located at 6p25-p23.

The MUM1 symbol is polysemous; although it is an older synonym for IRF4 (HGNC:6119), it is also the current HGNC official symbol for melanoma associated antigen (mutated) 1 (HGNC:29641; located at 19p13.3).

Clinical significance[edit]

In melanocytic cells the IRF4 gene may be regulated by MITF.[8] IRF4 is a transcription factor that has been implicated in acute leukemia.[9] This gene is strongly associated with pigmentation: sensitivity of skin to sun exposure, freckles, blue eyes, and brown hair color.[10] A variant has been implicated in greying of hair.[11]

The World Health Organization (2016) provisionally defined large B-cell lymphoma with IRF4 rearrangement as a rare indolent large B-cell lymphoma of children and adolescents. This indolent lymphoma mimics, and must be distinguished from, pediatric-type follicular lymphoma.[12] The hallmark of large B-cell lymphoma with IRF4 rearrangement is the overexpression of the IRF4 gene by the disease's malignant cells. This overexpression is forced by the acquisition in these cells of a translocation of IRF4 from its site on the short (i.e. p) arm of chromosome 6 at position 25.3[13] to a site near the IGH@ immunoglobulin heavy locus on the long (i.e. q) arm of chromosome 14 at position 32.33[14][15]


IRF4 has been shown to interact with:

See also[edit]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137265 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021356 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Grossman A, Mittrücker HW, Nicholl J, Suzuki A, Chung S, Antonio L, Suggs S, Sutherland GR, Siderovski DP, Mak TW (Feb 1997). "Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25". Genomics. 37 (2): 229–33. doi:10.1006/geno.1996.0547. PMID 8921401.
  6. ^ Xu D, Zhao L, Del Valle L, Miklossy J, Zhang L (Jun 2008). "Interferon regulatory factor 4 is involved in Epstein-Barr virus-mediated transformation of human B lymphocytes". J Virol. 82 (13): 6251–8. doi:10.1128/JVI.00163-08. PMC 2447047. PMID 18417578.
  7. ^ "Entrez Gene: IRF4 interferon regulatory factor 4".
  8. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  9. ^ Adamaki M, Lambrou GI, Athanasiadou A, Tzanoudaki M, Vlahopoulos S, Moschovi M (2013). "Implication of IRF4 aberrant gene expression in the acute leukemias of childhood". PLoS ONE. 8 (8): e72326. doi:10.1371/journal.pone.0072326. PMC 3744475. PMID 23977280.
  10. ^ Praetorius C, Grill C, Stacey SN, Metcalf AM, Gorkin DU, Robinson KC, et al. (November 2013). "A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway". Cell. 155 (5): 1022–33. doi:10.1016/j.cell.2013.10.022. PMC 3873608. PMID 24267888.
  11. ^ Adhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque JC, et al. (2016). "A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features". Nature Communications. 7: 10815. doi:10.1038/ncomms10815. PMC 4773514. PMID 26926045. Lay summaryBBC News.
  12. ^ Lynch RC, Gratzinger D, Advani RH (July 2017). "Clinical Impact of the 2016 Update to the WHO Lymphoma Classification". Current Treatment Options in Oncology. 18 (7): 45. doi:10.1007/s11864-017-0483-z. PMID 28670664.
  13. ^
  14. ^
  15. ^ Woessmann W, Quintanilla-Martinez L (June 2019). "Rare mature B-cell lymphomas in children and adolescents". Hematological Oncology. 37 Suppl 1: 53–61. doi:10.1002/hon.2585. PMID 31187530.
  16. ^ a b Gupta S, Jiang M, Anthony A, Pernis AB (December 1999). "Lineage-specific modulation of interleukin 4 signaling by interferon regulatory factor 4". J. Exp. Med. 190 (12): 1837–48. doi:10.1084/jem.190.12.1837. PMC 2195723. PMID 10601358.
  17. ^ Rengarajan J, Mowen KA, McBride KD, Smith ED, Singh H, Glimcher LH (April 2002). "Interferon regulatory factor 4 (IRF4) interacts with NFATc2 to modulate interleukin 4 gene expression". J. Exp. Med. 195 (8): 1003–12. doi:10.1084/jem.20011128. PMC 2193700. PMID 11956291.
  18. ^ Brass AL, Zhu AQ, Singh H (February 1999). "Assembly requirements of PU.1-Pip (IRF-4) activator complexes: inhibiting function in vivo using fused dimers". EMBO J. 18 (4): 977–91. doi:10.1093/emboj/18.4.977. PMC 1171190. PMID 10022840.
  19. ^ Escalante CR, Shen L, Escalante MC, Brass AL, Edwards TA, Singh H, Aggarwal AK (July 2002). "Crystallization and characterization of PU.1/IRF-4/DNA ternary complex". J. Struct. Biol. 139 (1): 55–9. doi:10.1016/S1047-8477(02)00514-2. PMID 12372320.

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.