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Gene Review

MAFB  -  v-maf avian musculoaponeurotic...

Homo sapiens

Synonyms: KRML, MCTO, Maf-B, Transcription factor MafB, V-maf musculoaponeurotic fibrosarcoma oncogene homolog B
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Disease relevance of MAFB


High impact information on MAFB

  • The bZip transcription factor MafB is expressed specifically in the myeloid lineage of the hematopoietic system and is up-regulated successively during myeloid differentiation from multipotent progenitors to macrophages [4].
  • In the hematopoietic system the bZip transcription factor MafB is selectively expressed at high levels in monocytes and macrophages and promotes macrophage differentiation in myeloid progenitors, whereas a dominant-negative allele can inhibit this process [5].
  • Two other genes (SNAI1 and KRML) mapping to human chromosome 20 are also duplicated in Fugu [6].
  • In addition, gene expression profiling of 351 clinical specimens revealed ARK5 expression in primary myelomas expressing c-MAF and MAFB, suggesting that ARK5 may be a transcriptional target of the Large-MAF family [3].
  • Furthermore, gene expression profiling enabled the identification of putative translocations causing dysregulation of CCND1 (1 MM and 1 PCL) and MAFB (1 MM and 1 PCL) without any apparent involvement of immunoglobulin loci [7].

Biological context of MAFB

  • In previous studies, we mapped the human KRML gene within a genomic contig on human chromosome 20, bands q11.2-q13 [2].
  • Thus, KRML is unlikely to be involved in the pathogenesis of malignant myeloid disorders characterized by abnormalities of chromosome 20 [2].
  • The ORF of the human KRML gene contains no introns, and the gene spans approximately 3 kb [2].
  • Based on results, we conclude that ARK5 is a transcriptional target of the Large-MAF family through MARE sequence and that ARK5 may in part mediate the aggressive phenotype associated with c-MAF- and MAFB-expressing myelomas [3].
  • Ectopic expression of MAFB gene in human myeloma cells carrying (14;20)(q32;q11) chromosomal translocations [8].

Other interactions of MAFB

  • Double color fluorescence in situ hybridization analyses pinpointed the breakpoints at the 20q11 locus in two MM cell lines within a length of at most 680 kb between the KIAA0823 and MAFB gene loci [8].
  • Among the transcribed sequences in the vicinity of the breakpoints, an ectopic expression of the MAFB gene, which is located at 450 - 680 kb telomeric to one of the breakpoints and encodes a member of the MAF family basic region / leucine zipper transcription factor, was demonstrated to be associated with t(14;20) [8].


  1. Transcript profiling in peripheral T-cell lymphoma, not otherwise specified, and diffuse large B-cell lymphoma identifies distinct tumor profile signatures. Mahadevan, D., Spier, C., Della Croce, K., Miller, S., George, B., Riley, C., Warner, S., Grogan, T.M., Miller, T.P. Mol. Cancer Ther. (2005) [Pubmed]
  2. Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. Wang, P.W., Eisenbart, J.D., Cordes, S.P., Barsh, G.S., Stoffel, M., Le Beau, M.M. Genomics (1999) [Pubmed]
  3. ARK5 is transcriptionally regulated by the Large-MAF family and mediates IGF-1-induced cell invasion in multiple myeloma: ARK5 as a new molecular determinant of malignant multiple myeloma. Suzuki, A., Iida, S., Kato-Uranishi, M., Tajima, E., Zhan, F., Hanamura, I., Huang, Y., Ogura, T., Takahashi, S., Ueda, R., Barlogie, B., Shaughnessy, J., Esumi, H. Oncogene (2005) [Pubmed]
  4. MafB is an inducer of monocytic differentiation. Kelly, L.M., Englmeier, U., Lafon, I., Sieweke, M.H., Graf, T. EMBO J. (2000) [Pubmed]
  5. Development of macrophages with altered actin organization in the absence of MafB. Aziz, A., Vanhille, L., Mohideen, P., Kelly, L.M., Otto, C., Bakri, Y., Mossadegh, N., Sarrazin, S., Sieweke, M.H. Mol. Cell. Biol. (2006) [Pubmed]
  6. Analyses of the extent of shared synteny and conserved gene orders between the genome of Fugu rubripes and human 20q. Smith, S.F., Snell, P., Gruetzner, F., Bench, A.J., Haaf, T., Metcalfe, J.A., Green, A.R., Elgar, G. Genome Res. (2002) [Pubmed]
  7. Characterization of oncogene dysregulation in multiple myeloma by combined FISH and DNA microarray analyses. Fabris, S., Agnelli, L., Mattioli, M., Baldini, L., Ronchetti, D., Morabito, F., Verdelli, D., Nobili, L., Intini, D., Callea, V., Stelitano, C., Lombardi, L., Neri, A. Genes Chromosomes Cancer (2005) [Pubmed]
  8. Ectopic expression of MAFB gene in human myeloma cells carrying (14;20)(q32;q11) chromosomal translocations. Hanamura, I., Iida, S., Akano, Y., Hayami, Y., Kato, M., Miura, K., Harada, S., Banno, S., Wakita, A., Kiyoi, H., Naoe, T., Shimizu, S., Sonta, S.I., Nitta, M., Taniwaki, M., Ueda, R. Jpn. J. Cancer Res. (2001) [Pubmed]
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