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Gene Review

KMT2D  -  lysine (K)-specific methyltransferase 2D

Homo sapiens

Synonyms: AAD10, ALL1-related protein, ALR, CAGL114, Histone-lysine N-methyltransferase 2D, ...
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Disease relevance of MLL2


High impact information on MLL2

  • The analysis of ALR expression showed that its approximately 18 kb long mRNA is expressed, like ALL-1, in most adult tissues, including a variety of hematopoietic cells, with the exception of the liver [3].
  • The ALR gene was mapped to chromosome band 12q12-13, adjacent to the VDR gene [3].
  • We have cloned a novel human gene, ALR, which encodes a gigantic 5262 amino acid long protein containing a SET domain, five PHD fingers, potential zinc fingers, and a very long run of glutamines interrupted by hydrophobic residues, mostly leucine [3].
  • The MLL2 gene was expressed in three cases with HBV DNA integrated into exon 3 of MLL2 and in one case with HBV DNA integrated into intron 3 of MLL2 [4].
  • Eight protein-coding regions were involved: ras-responsive element binding protein 1, calmodulin 1, mixed lineage leukemia 2 (MLL2), FLJ333655, LOC220272, LOC255345, LOC220220, and LOC168991 [4].

Biological context of MLL2


Anatomical context of MLL2

  • Therefore, using primary human hepatocytes in vitro we investigated the effect of ALR on the biosynthesis of polyamines [5].
  • This combination of ribosome display and immobilized model membranes was effective as an in vitro high-throughput screening system and enabled us to identify motif sequences (ALR, KVL) that selectively recognized the bacterial membrane [7].

Associations of MLL2 with chemical compounds


Physical interactions of MLL2

  • Recruitment of the MLL2 complex to the beta-globin locus is dependent upon NF-E2 and coincides spatio-temporally with NF-E2 binding during erythroid differentiation [8].

Other interactions of MLL2

  • Phosphorylation-defective mutants of either or both of these residues retain the associated histone methyltransferase activity of menin, as well as binding to the trithorax complex members Ash2L, Rbbp5, and MLL2 and to RNA polymerase II [9].


  1. Menin links estrogen receptor activation to histone H3K4 trimethylation. Dreijerink, K.M., Mulder, K.W., Winkler, G.S., Höppener, J.W., Lips, C.J., Timmers, H.T. Cancer Res. (2006) [Pubmed]
  2. Isolation and characterization of trinucleotide repeat containing partial transcripts in human spinal cord. Kaushik, N., Malaspina, A., Schalling, M., Baas, F., de Belleroche, J. Neurogenetics (1998) [Pubmed]
  3. Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. Prasad, R., Zhadanov, A.B., Sedkov, Y., Bullrich, F., Druck, T., Rallapalli, R., Yano, T., Alder, H., Croce, C.M., Huebner, K., Mazo, A., Canaani, E. Oncogene (1997) [Pubmed]
  4. Alteration of gene expression in human hepatocellular carcinoma with integrated hepatitis B virus DNA. Tamori, A., Yamanishi, Y., Kawashima, S., Kanehisa, M., Enomoto, M., Tanaka, H., Kubo, S., Shiomi, S., Nishiguchi, S. Clin. Cancer Res. (2005) [Pubmed]
  5. Regulation of polyamine synthesis in human hepatocytes by hepatotrophic factor augmenter of liver regeneration. Dayoub, R., Thasler, W.E., Bosserhoff, A.K., Singer, T., Jauch, K.W., Schlitt, H.J., Weiss, T.S. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  6. Magnesium transporters: properties, regulation and structure. Maguire, M.E. Front. Biosci. (2006) [Pubmed]
  7. In vitro system for high-throughput screening of random peptide libraries for antimicrobial peptides that recognize bacterial membranes. Xie, Q., Matsunaga, S., Wen, Z., Niimi, S., Kumano, M., Sakakibara, Y., Machida, S. J. Pept. Sci. (2006) [Pubmed]
  8. Activator-mediated recruitment of the MLL2 methyltransferase complex to the beta-globin locus. Demers, C., Chaturvedi, C.P., Ranish, J.A., Juban, G., Lai, P., Morle, F., Aebersold, R., Dilworth, F.J., Groudine, M., Brand, M. Mol. Cell (2007) [Pubmed]
  9. Phosphorylation of the menin tumor suppressor protein on serine 543 and serine 583. Macconaill, L.E., Hughes, C.M., Rozenblatt-Rosen, O., Nannepaga, S., Meyerson, M. Mol. Cancer Res. (2006) [Pubmed]
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