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
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 8085 381022
Ensembl ENSG00000167548 ENSMUSG00000048154
UniProt O14686 n/a
RefSeq (mRNA) NM_003482 NM_001033276.2
RefSeq (protein) NP_003473 NP_001028448.2
Location (UCSC) Chr 12:
49.42 – 49.45 Mb		 Chr 15:
98.66 – 98.7 Mb
PubMed search [1] [2]

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.

References

  1. ^ 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. 
  2. ^ "Entrez Gene: MLL2 myeloid/lymphoid or mixed-lineage leukemia 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8085. 
  3. ^ 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. 
  4. ^ 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. 

Further reading

External links

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