Web18 okt. 2024 · NSD2 is a typical histone lysine methyltransferase, which mainly catalyses the formation of H3K36me2 and promotes gene transcription. 11, 12 Loss of NSD2 function would cause Wolf-Hirschhorn syndrome characterized by cardiac malformations. 13, 14 However, the role of NSD2 in ventricular remodelling has not been studied. WebNSD2: Gain-of-function mutations: E1099K inALL, lung adenocarcinoma, colon cancer, thyroid tumors (Husmann and Gozani, 2024), and T1150A in mantle cell lymphoma (Beà et al., 2013); overexpression in multiple myeloma and prostate cancer (Husmann and Gozani, 2024) Oncogenic: NSD3
Loss-of-function and missense variants in NSD2 cause decreased ...
WebNSD2 is the principal enzyme that dimethylates histone H3 at lysine 36 (H3K36me2) 11. in most cell types and tissues. 21. H3K36me2 is an evolutionarily conserved histone modification linked to transcriptional activation. The (likely) pathogenic missense variants we found map to three distinct domains of NSD2. WebProbable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the NSD2 gene. [5] [6] [7] This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. field of battles wiki
Matthew Parker - Clinical Bioinformatics Lead, Associate Director ...
Web21 mrt. 2024 · NSD2 (Nuclear Receptor Binding SET Domain Protein 2) is a Protein Coding gene. Diseases associated with NSD2 include Rauch-Steindl Syndrome and Wolf-Hirschhorn Syndrome . Among its related pathways are Homology Directed Repair and … Web23 jun. 2024 · The multiple functional domains of NSD2 may work independently or in concert, enabling the diverse functions of NSD2 observed during spermatogenesis. Although the enzymology and molecular function of NSD2 have been documented, the biological consequences of NSD2 inactivation in testis development at the organism level … WebThe major molecular function of NSD2 is to generate the bulk of H3K36me2 in cells, and overexpression of NSD2 alone is sufficient to elicit changes in the global levels of … field of battle value list