ARID1B

Germline mutations in ARID1B are associated with Coffin–Siris syndrome.{{cite journal | vauthors = Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N | title = Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome | journal = Nat. Genet. | volume = 44 | issue = 4 | pages = 376–8 |date=April 2012 | pmid = 22426308 | doi = 10.1038/ng.2219 | s2cid = 205345340 }}{{cite journal | vauthors = Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M | title = Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome | journal = Nat. Genet. | volume = 44 | issue = 4 | pages = 379–80 |date=April 2012 | pmid = 22426309 | doi = 10.1038/ng.2217 | s2cid = 205345323 }} Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is a tumor suppressor gene.{{cite journal | vauthors = Shain AH, Pollack JR | title = The spectrum of SWI/SNF mutations, ubiquitous in human cancers | journal = PLOS ONE | volume = 8 | issue = 1 | pages = e55119 | year = 2013 | pmid = 23355908 | pmc = 3552954 | doi = 10.1371/journal.pone.0055119 | bibcode = 2013PLoSO...855119S | doi-access = free }}{{cite journal | vauthors = Sausen M, Leary RJ, Jones S, Wu J, Reynolds CP, Liu X, Blackford A, Parmigiani G, Diaz LA, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE, Hogarty MD | title = Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma | journal = Nat. Genet. | volume = 45 | issue = 1 | pages = 12–7 |date=January 2013 | pmid = 23202128 | pmc = 3557959 | doi = 10.1038/ng.2493 }}{{cite journal | vauthors = Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, Maitra A, Pollack JR | title = Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 109 | issue = 5 | pages = E252–9 |date=January 2012 | pmid = 22233809 | pmc = 3277150 | doi = 10.1073/pnas.1114817109 | doi-access = free | bibcode = 2012PNAS..109E.252S }}{{cite journal | vauthors = Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, Aoki M, Hosono N, Kubo M, Miya F, Arai Y, Takahashi H, Shirakihara T, Nagasaki M, Shibuya T, Nakano K, Watanabe-Makino K, Tanaka H, Nakamura H, Kusuda J, Ojima H, Shimada K, Okusaka T, Ueno M, Shigekawa Y, Kawakami Y, Arihiro K, Ohdan H, Gotoh K, Ishikawa O, Ariizumi S, Yamamoto M, Yamada T, Chayama K, Kosuge T, Yamaue H, Kamatani N, Miyano S, Nakagama H, Nakamura Y, Tsunoda T, Shibata T, Nakagawa H | title = Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators | journal = Nat. Genet. | volume = 44 | issue = 7 | pages = 760–4 |date=July 2012 | pmid = 22634756 | doi = 10.1038/ng.2291 | s2cid = 54585617 }}

ARID1B has been shown to interact with SMARCA4{{cite journal | vauthors = Hurlstone AF, Olave IA, Barker N, van Noort M, Clevers H | title = Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein | journal = Biochem. J. | volume = 364 | issue = Pt 1 | pages = 255–64 |date=May 2002 | pmid = 11988099 | pmc = 1222568 | doi = 10.1042/bj3640255}}{{cite journal | vauthors = Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N | title = Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors | journal = J. Biol. Chem. | volume = 277 | issue = 44 | pages = 41674–85 |date=November 2002 | pmid = 12200431 | doi = 10.1074/jbc.M205961200 | doi-access = free }} and SMARCA2.

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• {{MeshName|ARID1B+protein,+human}}
• {{UCSC gene info|ARID1B}}

{{PDB Gallery|geneid=57492}}

{{Transcription factors|g0}}

{{NLM content}}

Category:Transcription factors