MLL2

Myeloid/lymphoid or mixed-lineage leukemia 2
Identifiers
Symbols	MLL2; AAD10; ALR; CAGL114; KMS; KMT2B; KMT2D; MLL4; TNRC21
External IDs	OMIM: 602113 MGI: 2682319 HomoloGene: 86893 GeneCards: MLL2 Gene
EC number	2.1.1.43
Gene Ontology
Molecular function	• DNA binding; • protein binding; • methyltransferase activity; • zinc ion binding; • transferase activity; • histone-lysine N-methyltransferase activity; • transcription regulatory region DNA binding; • metal ion binding;
Cellular component	• nucleus; • histone methyltransferase complex;
Biological process	• oocyte growth; • in utero embryonic development; • chromatin silencing; • regulation of transcription, DNA-dependent; • positive regulation of cell proliferation; • chromatin modification; • positive regulation of estrogen receptor signaling pathway; • response to estrogen stimulus; • positive regulation of transcription from RNA polymerase II promoter; • oogenesis; • histone H3-K4 methylation;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs

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Histone-lysine N-methyltransferase MLL2 is an enzyme that in humans is encoded by the MLL2 gene.^[1]^[2] This is a Trithorax-group protein

The gene was originally named MLL2 after myeloid/lymphoid or mixed-lineage leukemia cases. It is now understood that its effect in lymphomagenesis is via the disruption of chromatin regulation.^[3] In August 2010, a study^[4] found that two thirds of a sample of 53 cases of Kabuki Syndrome have a loss-of-function mutation in the MLL2 gene.

[edit] References

^ Prasad R, Zhadanov AB, Sedkov Y, Bullrich F, Druck T, Rallapalli R, Yano T, Alder H, Croce CM, Huebner K, Mazo A, Canaani E (Aug 1997). "Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax". Oncogene 15 (5): 549–60. doi:10.1038/sj.onc.1201211. PMID 9247308.
^ "Entrez Gene: MLL2 myeloid/lymphoid or mixed-lineage leukemia 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8085.
^ Morin, Ryan D.; Mendez-Lago, Maria, Mungall, Andrew J., Goya, Rodrigo, Mungall, Karen L., Corbett, Richard D., Johnson, Nathalie A., Severson, Tesa M., Chiu, Readman, Field, Matthew, Jackman, Shaun, Krzywinski, Martin, Scott, David W., Trinh, Diane L., Tamura-Wells, Jessica, Li, Sa, Firme, Marlo R., Rogic, Sanja, Griffith, Malachi, Chan, Susanna, Yakovenko, Oleksandr, Meyer, Irmtraud M., Zhao, Eric Y., Smailus, Duane, Moksa, Michelle, Chittaranjan, Suganthi, Rimsza, Lisa, Brooks-Wilson, Angela, Spinelli, John J., Ben-Neriah, Susana, Meissner, Barbara, Woolcock, Bruce, Boyle, Merrill, McDonald, Helen, Tam, Angela, Zhao, Yongjun, Delaney, Allen, Zeng, Thomas, Tse, Kane, Butterfield, Yaron, Birol, Inanç, Holt, Rob, Schein, Jacqueline, Horsman, Douglas E., Moore, Richard, Jones, Steven J. M., Connors, Joseph M., Hirst, Martin, Gascoyne, Randy D., Marra, Marco A. (26 July 2011). "Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma". Nature 476 (7360): 298–303. doi:10.1038/nature10351.
^ Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI et al. (2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.". Nat Genet 42 (9): 790–3. doi:10.1038/ng.646. PMC 2930028. PMID 20711175. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2930028.

[edit] Further reading

Jiang JX, Deprez RH, Zwarthoff EC, Riegman PH (1996). "Characterization of four novel CAG repeat-containing cDNAs.". Genomics 30 (1): 91–3. doi:10.1006/geno.1995.0015. PMID 8595911.
Imbert G, Saudou F, Yvert G, et al. (1996). "Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.". Nat. Genet. 14 (3): 285–91. doi:10.1038/ng1196-285. PMID 8896557.
Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16267.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
Goo YH, Sohn YC, Kim DH, et al. (2003). "Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.". Mol. Cell. Biol. 23 (1): 140–9. doi:10.1128/MCB.23.1.140-149.2003. PMC 140670. PMID 12482968. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=140670.
Hughes CM, Rozenblatt-Rosen O, Milne TA, et al. (2004). "Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.". Mol. Cell 13 (4): 587–97. doi:10.1016/S1097-2765(04)00081-4. PMID 14992727.
Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway.". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=442148.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins.". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=514446.
Mo R, Rao SM, Zhu YJ (2006). "Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.". J. Biol. Chem. 281 (23): 15714–20. doi:10.1074/jbc.M513245200. PMID 16603732.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
Issaeva I, Zonis Y, Rozovskaia T, et al. (2007). "Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.". Mol. Cell. Biol. 27 (5): 1889–903. doi:10.1128/MCB.01506-06. PMC 1820476. PMID 17178841. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1820476.

[edit] External links

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

This article on a gene on chromosome 12 is a stub. You can help Wikipedia by expanding it.

[pmid9247308-0] Prasad R, Zhadanov AB, Sedkov Y, Bullrich F, Druck T, Rallapalli R, Yano T, Alder H, Croce CM, Huebner K, Mazo A, Canaani E (Aug 1997). "Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax". Oncogene 15 (5): 549–60. doi:10.1038/sj.onc.1201211. PMID 9247308.

[entrez-1] "Entrez Gene: MLL2 myeloid/lymphoid or mixed-lineage leukemia 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8085.

[2] Morin, Ryan D.; Mendez-Lago, Maria, Mungall, Andrew J., Goya, Rodrigo, Mungall, Karen L., Corbett, Richard D., Johnson, Nathalie A., Severson, Tesa M., Chiu, Readman, Field, Matthew, Jackman, Shaun, Krzywinski, Martin, Scott, David W., Trinh, Diane L., Tamura-Wells, Jessica, Li, Sa, Firme, Marlo R., Rogic, Sanja, Griffith, Malachi, Chan, Susanna, Yakovenko, Oleksandr, Meyer, Irmtraud M., Zhao, Eric Y., Smailus, Duane, Moksa, Michelle, Chittaranjan, Suganthi, Rimsza, Lisa, Brooks-Wilson, Angela, Spinelli, John J., Ben-Neriah, Susana, Meissner, Barbara, Woolcock, Bruce, Boyle, Merrill, McDonald, Helen, Tam, Angela, Zhao, Yongjun, Delaney, Allen, Zeng, Thomas, Tse, Kane, Butterfield, Yaron, Birol, Inanç, Holt, Rob, Schein, Jacqueline, Horsman, Douglas E., Moore, Richard, Jones, Steven J. M., Connors, Joseph M., Hirst, Martin, Gascoyne, Randy D., Marra, Marco A. (26 July 2011). "Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma". Nature 476 (7360): 298–303. doi:10.1038/nature10351.

[pmid20711175-3] Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI et al. (2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.". Nat Genet 42 (9): 790–3. doi:10.1038/ng.646. PMC 2930028. PMID 20711175. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2930028.

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[3]

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MLL2

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[edit] Further reading

[edit] External links

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