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| KMT2B |
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| | Identifiers |
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| Aliases | KMT2B, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7, CXXC10, lysine methyltransferase 2B, DYT28 |
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| External IDs | OMIM: 606834; MGI: 109565; GeneCards: KMT2B |
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| | | | | | | | Wikidata | |
Histone-lysine N-methyltransferase 2B is a protein that in humans is encoded by the KMT2B gene.[5]
This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known.[5]
Further reading
- Bedford MT, Chan DC, Leder P (1997). "FBP WW domains and the Abl SH3 domain bind to a specific class of proline-rich ligands". The EMBO Journal. 16 (9): 2376–2383. doi:10.1093/emboj/16.9.2376. PMC 1169838. PMID 9171351.
- Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, et al. (April 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 4 (2): 141–150. doi:10.1093/dnares/4.2.141. PMID 9205841.
- FitzGerald KT, Diaz MO (1999). "MLL2: A new mammalian member of the trx/MLL family of genes". Genomics. 59 (2): 187–192. doi:10.1006/geno.1999.5860. PMID 10409430.
- Huntsman DG, Chin SF, Muleris M, Batley SJ, Collins VP, Wiedemann LM, et al. (December 1999). "MLL2, the second human homolog of the Drosophila trithorax gene, maps to 19q13.1 and is amplified in solid tumor cell lines". Oncogene. 18 (56): 7975–7984. doi:10.1038/sj.onc.1203291. PMID 10637508.
- Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, et al. (April 2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–535. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
- Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, et al. (July 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–1332. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, et al. (October 2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Research. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, et al. (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
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