Additional sex combs like 2, transcriptional regulator explained

Additional sex combs like 2, transcriptional regulator is a protein that in humans is encoded by the ASXL2 gene.^[1]

Function

This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis.

See also

• Polycomb-group proteins
• ASXL1
• ASXL3

Further reading

• Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N, Schreiber S, Backofen R, Platzer M . Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns . Genome Biol. . 8 . 8 . R154 . 2007 . 17672918 . 2374985 . 10.1186/gb-2007-8-8-r154 . free .
• Baskind HA, Na L, Ma Q, Patel MP, Geenen DL, Wang QT . Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx . PLOS ONE . 43 . 1 . e4750 . 2009 . 19270745 . 10.1371/journal.pone.0004750 . 2650259 . 2009PLoSO...4.4750B . free .
• Farber CR, Bennett BJ, Orozco L, Zou W, Lira A, Kostem E, Kang HM, Furlotte N, Berberyan A, Ghazalpour A, Suwanwela J, Drake TA, Eskin E, Wang QT, Teitelbaum SL, Lusis AJ . Mouse genome-wide association and systems genetics identify Asxl2 as a regulator of bone mineral density and osteoclastogenesis . PLOS Genet. . 7 . 4 . e1002038 . 2011 . 21490954 . 10.1371/journal.pgen.1002038 . 3072371 . free .
• Park UH, Yoon SK, Park T, Kim EJ, Um SJ . Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor . J. Biol. Chem. . 286 . 2 . 1354–63 . 2011 . 21047783 . 3020743 . 10.1074/jbc.M110.177816 . free .
• Lai HL, Grachoff M, Marion AL, Khan FF, Warren CM, Chowdhury SA, Wolska BM, Solaro RJ, Geenen DL, Wang QT . Maintenance of adult cardiac function requires the chromatin factor Asxl2 . J. Mol. Cell. Cardiol. . 53 . 5 . 734–41 . 2012 . 23046516 . 3472135 . 10.1016/j.yjmcc.2012.08.014 .
• Lai HL, Wang QT . Additional Sex Combs-Like 2 Is Required for Polycomb Repressive Complex 2 Binding at Select Targets . PLOS ONE . 8 . 9 . e73983 . 2013 . 24040135 . 3767597 . 10.1371/journal.pone.0073983 . 2013PLoSO...873983L . free .
• Micol JB, Duployez N, Boissel N, Petit A, Geffroy S, Nibourel O, Lacombe C, Lapillonne H, Etancelin P, Figeac M, Renneville A, Castaigne S, Leverger G, Ifrah N, Dombret H, Preudhomme C, Abdel-Wahab O, Jourdan E . Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations . Blood . 124 . 9 . 1445–9 . 2014 . 24973361 . 4148766 . 10.1182/blood-2014-04-571018 .
• McGinley AL, Li Y, Deliu Z, Wang QT . Additional sex combs-like family genes are required for normal cardiovascular development . Genesis . 52 . 7 . 671–86 . 2014 . 24860998 . 10.1002/dvg.22793 . 1810967 .
• Khan FF, Li Y, Balyan A, Wang QT . WTIP interacts with ASXL2 and blocks ASXL2-mediated activation of retinoic acid signaling . Biochem. Biophys. Res. Commun. . 451 . 1 . 101–6 . 2014 . 25065743 . 10.1016/j.bbrc.2014.07.080 .
• Izawa T, Rohatgi N, Fukunaga T, Wang QT, Silva MJ, Gardner MJ, McDaniel ML, Abumrad NA, Semenkovich CF, Teitelbaum SL, Zou W . ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis . Cell Rep. . 11 . 10 . 1625–37 . 2015 . 26051940 . 10.1016/j.celrep.2015.05.019 . 4472564.
• Katoh M . Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine . Expert Rev Proteomics . 12 . 3 . 317–28 . 2015 . 25835095 . 10.1586/14789450.2015.1033409 . 19970429 .
• Daou S, Hammond-Martel I, Mashtalir N, Barbour H, Gagnon J, Iannantuono NV, Nkwe NS, Motorina A, Pak H, Yu H, Wurtele H, Milot E, Mallette FA, Carbone M, Affar el B . The BAP1/ASXL2 Histone H2A Deubiquitinase Complex Regulates Cell Proliferation and Is Disrupted in Cancer . J. Biol. Chem. . 290 . 48 . 28643–63 . 2015 . 26416890 . 4661380 . 10.1074/jbc.M115.661553 . free .
• Brunner R, Lai HL, Deliu Z, Melman E, Geenen DL, Wang QT . Asxl2−/− Mice Exhibit De Novo Cardiomyocyte Production during Adulthood . J. Dev. Biol. . 4 . 4 . 32 . 2016 . 29615595 . 10.3390/jdb4040032 . 5831801. free .
• Li J, He F, Zhang P, Chen S, Shi H, Sun Y, Guo Y, Yang H, Man N, Greenblatt S, Li Z, Guo Z, Zhou Y, Wang L, Morey L, Williams S, Chen X, Wang QT, Nimer SD, Yu P, Wang QF, Xu M, Yang FC . Loss of Asxl2 leads to myeloid malignancies in mice . Nat. Commun. . 8 . 15456 . 2017 . 28593990 . 10.1038/ncomms15456 . 5472177. 2017NatCo...815456L .

Notes and References

1. Web site: Entrez Gene: Additional sex combs like 2, transcriptional regulator. 2017-06-03.