Additional sex combs like 2, transcriptional regulator

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
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Wikidata
View/Edit Human

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.

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.
• 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.
• 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.
• 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.
• 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.
• 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.

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