Ask about this productRelated genes to: SMARCA2 antibody
- Gene:
- SMARCA2 NIH gene
- Name:
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
- Previous symbol:
- SNF2L2
- Synonyms:
- BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2
- Chromosome:
- 9p24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-07-22
- Date modifiied:
- 2019-04-23
Related products to: SMARCA2 antibody
Related articles to: SMARCA2 antibody
- Cerebrospinal fluid amyloid beta 42, total tau, and phosphorylated tau 181 are well accepted markers of Alzheimer's disease. These biomarkers better reflect disease pathogenesis compared to clinical diagnosis. Here, we perform a genome wide association study meta-analysis including 18,948 individuals of European ancestry and identify 12 genome-wide significant loci across all three biomarkers, eight of them novel. We replicate the association of biomarkers with APOE, CR1, GMNC/CCDC50 and C16orf95/MAP1LC3B. Novel loci include BIN1 for amyloid beta and GNA12, MS4A6A, SLCO1A2 with both total tau and phosphorylated tau 181, as well as additional loci on chr. 8, near ANGPT1 and chr. 9 near SMARCA2. We also demonstrate that these variants have significant association with Alzheimer's disease risk, disease progression and/or brain amyloidosis. The associated genes are implicated in lipid metabolism independent of APOE, coupled with autophagy and brain volume regulation driven by total tau and phosphorylated tau 181 dysregulation. - Source: PubMed
Publication date: 2026/04/21
Timsina JigyashaJiang ChenyangMcCartney Daniel LTao FeifeiDalmasso Maria CarolinaNajar JennaAnastasi FedericaOhlei OlenaPuerta Fuentes RaquelYang ChenyuBradley JosephWestern DanielAli MuhammadWang CiyangYang ChengranWu YingLiu MenghanBudde JohnWilliams JulieMahoney RebeccaCastillo Morales AtahualpaHohman Timothy JDumitrescu LoganWang Ting-ChenTesi Niccolo'Kern SilkeWaern MargdaSkoog Ingmarvan Harten ArgondePijnenburg Yolande A Lvan der Flier Wiesje MSánchez-Juan PascualRodriguez-Rodriguez EloyKleineidam LucaPeters OliverSchneider AnjaKüçükali FahriBellenguez CélineGrenier-Boley BenjaminHeikkinen Samide Rojas ItziarRujescu DanScherbaum NorbertHausner LucreziaDüzel EmrahGrimmer TimoWiltfang JensVandenberghe RikEngelborghs SebastiaanHeilmann-Heimbach StefanieSchmid MatthiasTegos ThomasScarmeas NikolaosDols-Icardo OriolMoreno FerminPérez-Tur JordiBullido María JSánchez-Valle RaquelÁlvarez VictoriaGarcía-González PabloMir PabloReal Luis MPiñol-Ripoll GerardGarcía-Alberca Jose MaríaSeelaar HarroRamakers InezPapma JanneHulsman MarcLaske ChristophTeipel StefanPriller JosefPerneczky RobertBuerger KatharinaNöthen Markus MLewczuk PiotrKornhuber JohannesHampel HaraldGiegling InaGoldhardt OliverDiehl-Schmid JanineAndrade VictorHeneka Michael MtFrölich LutzVogelgsang JonathanGraff CarolineThonberg HakanUllgren AbbePapenberg GoranDeleuze Jean-FrançoisDufouil CaroleWagner MichaelJessen FrankHolstege Hennevan Duijn CorneliaLebouvier ThibaudHannon OlivierLeinonen VilleSoininen HilkkaHerukka Sanna-KaisaGiedraitis VilmantasLöwenmark MalinKilander LenaGenius PatriciaRodríguez BlancaLuckett Emma SNavarro ArcadiCano AmandaMarquié MartaBlennow KajZetterberg HenrikLleo AlbertoBoada MercèRuiz AgustinLee Virginia Man-YeeVan Deerlin Vivianna MDeming YuetivaJohnson Sterling CEngelman Corinne DPastor PauAlvarez IgnacioPeskind Elaine RHeslegrave Amanda JSaykin Andrew JNho KwangsikSchindler Suzanne EMorris John CHoltzman David MMcDade EricRenton Alan EGoate AlisonIbanez LauraRiemenschneider MatthiasAlbert Marilyn SLaws Simon MPorter TenielleO'Brien Eleanor KShaw Leslie MTijms Betty MIngelsson MartinVisser Pieter JelleHiltunen MikkoSleegers KristelRitchie Craig WSims RebeccaBelloy MichaelLambert Jean-CharlesVilor-Tejedor NataliaFernández Maria VictoriaLi Qingqin SNagle Michael WMarioni Riccardo ERamirez AlfredoBertram Larsvan der Lee Sven JCruchaga Carlos - Targeted protein degradation of SMARCA2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 2) with proteolysis targeting chimeras (PROTACs) represents a promising approach for the treatment of non-small cell lung cancer (NSCLC). SMARCA2 PROTACs have been reported with sufficient potency and selectivity to drive in vitro activity, however their rapid clearance from systemic circulation, limited tumor distribution, and dose-limiting toxicity prevented sustained tumor growth inhibition in mouse NSCLC xenograft models. To overcome these issues, we conjugated known SMARCA2 PROTACs to poly-L-lysine dendrimers via hydrolytically cleavable linkers with tunable release rates. We found that the PROTAC release rate from the dendrimer conjugate correlated with the systemic and tumor exposure of the free PROTAC, SMARCA2 degradation in tumor and downstream target modulation, and efficacy in a mouse NSCLC xenograft model. A single dose of an optimized dendrimer-PROTAC conjugate achieved tumor stasis up to 21 days at a significantly lower dose than the PROTAC alone, with no adverse effects. This work highlights the potential of dendrimer-based technologies to deliver PROTACs to solid tumors, to mitigate common PROTAC liabilities, and to enable the use of PROTACs from a broader medicinal chemistry design space. - Source: PubMed
Publication date: 2026/04/15
O'Brien Laramy MatthewHalim RoslianaDockrey Summer BakerYu Shang-FanDel Rosario GeoffYauch Robert LYe XiaofenZhang DongluCosino ElyHeery GrahamChadwick GarethOwen DavidHufton Richard - Small Cell Carcinoma of the Ovary (SCCO) is an extremely rare form of ovarian cancer characterised by bi-allelic mutations in the gene, a member of the SWI/SNF chromatin remodelling complex. Most previous analyses have characterised SCCO using whole exome sequencing; we present the treatment plans of two SCCO patients with post-treatment analysis of whole genome sequencing and tumour RNA sequencing which include structural variant and mutational signature analysis not previously reported in the literature for this cancer type. Both patients underwent salpingo-oophorectomy followed by BEP chemotherapy and pelvic radiotherapy leading to 34 month remission in one case though one patient died 12 months post-diagnosis. Consistent with known aetiology, we identified complete loss of function and probable expression loss in both patients. Beyond this, both tumours present remarkably low tumour mutational burdens and were microsatellite stable though one sample also showed chromosomal instability with high levels of inversions and a ploidy level of 2.8 which has not been well characterised in SCCO patients. This report contributes towards the small number of cases of SCCO that are currently documented and have their genome characterised in the literature. - Source: PubMed
Publication date: 2026/03/31
Daoud SaraTinsley EmilyTreacy AnnMiller CarolineThompson ClaireHennessey Bryan TToomey SineadFurney Simon J - Gene mutations and altered epigenetic regulation of gene expression are characteristic features of malignant neoplasms. Combinations of these abnormalities form molecular features of individual tumors. In the large-scale Dependency Map (DepMap) project, the broad panels of human tumor cell lines are being tested for sensitivity to single gene inactivation. Using DepMap data, we have previously identified a set of genes termed supertargets, the deletion of which significantly reduced the survival of cells of a particular tissue origin while minimally impairing the unrelated cell lines. In the present study, we determined the factors of viability (inhibition of proliferation or death) of cell lines in which the supertarget genes have been deleted. We found that, in 79 % of cases, the reduced survival may be caused by epigenetic changes of gene expression. In the remaining 21 % of cases, it is associated with altered gene structure. Three groups containing different types of gene expression alterations can be distinguished. In the first group, the reduced cell survival correlated with a higher expression of the supertarget gene (e. g., SOX10 and HNF1B). In the second group, a gene different from the deleted supertarget was overexpressed (gene pairs: FOXA1 and SPDEF, TP63 and SERPINB13, etc.). The third group was characterized by correlations between low expression of a certain gene and tumor cell sensitivity (e. g., FAM126A and FAM126B, SMARCA2 and SMARCA4). The genetic changes included GOF mutations (KRAS, BRAF genes, etc.), LOF mutations (STAG1, SMARCA2 genes, etc.), gene fusions (BCR-ABL1, PAX3-FOXO1, etc.), and amplification (CPM, BEST3, etc.). Therefore, many different molecular mechanisms act as predictors of tumor cell response to inhibition of supertarget genes. - Source: PubMed
Chetverina D AKozelchuk N YLomaev D VShtil A AErokhin М M - - Source: PubMed
Publication date: 2026/04/05
Jiang WeiyangLi ShijiePeng YiXiao JueWang DingChen ChunyanZhang YanZhang ChongFu Chunling