Additional sex combs like 2, transcriptional regulator

ASXL2
Identifiers
Aliases	ASXL2, ASXH2, additional sex combs like 2, transcriptional regulator, SHAPNS, ASXL transcriptional regulator 2
External IDs	OMIM: 612991 MGI: 1922552 HomoloGene: 10102 GeneCards: ASXL2
Gene location (Human) Chr. Chromosome 2 (human) Band 2p23.3 Start 25,733,753 bp End 25,878,487 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 A1.1 Start 3,426,857 bp End 3,506,852 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in caput epididymis corpus epididymis trabecular bone lower lobe of lung bronchial epithelial cell superficial temporal artery vulva superior surface of tongue oral cavity lactiferous duct Top expressed in interventricular septum spermatocyte parotid gland cumulus cell Paneth cell hand retinal pigment epithelium hair follicle lacrimal gland ciliary body More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding peroxisome proliferator activated receptor binding metal ion binding chromatin binding Cellular component nucleus nucleoplasm PR-DUB complex Biological process positive regulation of fat cell differentiation regulation of transcription, DNA-templated transcription, DNA-templated positive regulation of transcription by RNA polymerase II positive regulation of peroxisome proliferator activated receptor signaling pathway protein deubiquitination animal organ morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55252 75302 Ensembl ENSG00000143970 ENSMUSG00000037486 UniProt Q76L83 Q8BZ32 RefSeq (mRNA) NM_018263 NM_001369346 NM_001369347 NM_001270988 NM_172421 RefSeq (protein) NP_060733 NP_001356275 NP_001356276 NP_001257917 NP_766009 Location (UCSC) Chr 2: 25.73 – 25.88 Mb Chr 12: 3.43 – 3.51 Mb PubMed search
Wikidata
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Additional sex combs like 2, transcriptional regulator is a protein that in humans is encoded by the ASXL2 gene.

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 (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns". Genome Biol. 8 (8): R154. doi:10.1186/gb-2007-8-8-r154. PMC 2374985. PMID 17672918.
• Baskind HA, Na L, Ma Q, Patel MP, Geenen DL, Wang QT (2009). "Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx". PLOS ONE. 43 (1): e4750. Bibcode:2009PLoSO...4.4750B. doi:10.1371/journal.pone.0004750. PMC 2650259. PMID 19270745.
• 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 (2011). "Mouse genome-wide association and systems genetics identify Asxl2 as a regulator of bone mineral density and osteoclastogenesis". PLOS Genet. 7 (4): e1002038. doi:10.1371/journal.pgen.1002038. PMC 3072371. PMID 21490954.
• Park UH, Yoon SK, Park T, Kim EJ, Um SJ (2011). "Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}". J. Biol. Chem. 286 (2): 1354–63. doi:10.1074/jbc.M110.177816. PMC 3020743. PMID 21047783.
• Lai HL, Grachoff M, Marion AL, Khan FF, Warren CM, Chowdhury SA, Wolska BM, Solaro RJ, Geenen DL, Wang QT (2012). "Maintenance of adult cardiac function requires the chromatin factor Asxl2". J. Mol. Cell. Cardiol. 53 (5): 734–41. doi:10.1016/j.yjmcc.2012.08.014. PMC 3472135. PMID 23046516.
• Lai HL, Wang QT (2013). "Additional Sex Combs-Like 2 Is Required for Polycomb Repressive Complex 2 Binding at Select Targets". PLOS ONE. 8 (9): e73983. Bibcode:2013PLoSO...873983L. doi:10.1371/journal.pone.0073983. PMC 3767597. PMID 24040135.
• 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 (2014). "Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations". Blood. 124 (9): 1445–9. doi:10.1182/blood-2014-04-571018. PMC 4148766. PMID 24973361.
• McGinley AL, Li Y, Deliu Z, Wang QT (2014). "Additional sex combs-like family genes are required for normal cardiovascular development". Genesis. 52 (7): 671–86. doi:10.1002/dvg.22793. PMID 24860998. S2CID 1810967.
• Khan FF, Li Y, Balyan A, Wang QT (2014). "WTIP interacts with ASXL2 and blocks ASXL2-mediated activation of retinoic acid signaling". Biochem. Biophys. Res. Commun. 451 (1): 101–6. doi:10.1016/j.bbrc.2014.07.080. PMID 25065743.
• Izawa T, Rohatgi N, Fukunaga T, Wang QT, Silva MJ, Gardner MJ, McDaniel ML, Abumrad NA, Semenkovich CF, Teitelbaum SL, Zou W (2015). "ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis". Cell Rep. 11 (10): 1625–37. doi:10.1016/j.celrep.2015.05.019. PMC 4472564. PMID 26051940.
• Katoh M (2015). "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. doi:10.1586/14789450.2015.1033409. PMID 25835095. S2CID 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 (2015). "The BAP1/ASXL2 Histone H2A Deubiquitinase Complex Regulates Cell Proliferation and Is Disrupted in Cancer". J. Biol. Chem. 290 (48): 28643–63. doi:10.1074/jbc.M115.661553. PMC 4661380. PMID 26416890.
• Brunner R, Lai HL, Deliu Z, Melman E, Geenen DL, Wang QT (2016). "Asxl2−/− Mice Exhibit De Novo Cardiomyocyte Production during Adulthood". J. Dev. Biol. 4 (4): 32. doi:10.3390/jdb4040032. PMC 5831801. PMID 29615595.
• 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 (2017). "Loss of Asxl2 leads to myeloid malignancies in mice". Nat. Commun. 8: 15456. Bibcode:2017NatCo...815456L. doi:10.1038/ncomms15456. PMC 5472177. PMID 28593990.

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