2024年12月25日 · SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with SETD2 include Intellectual Developmental Disorder, Autosomal Dominant 70 and Luscan-Lumish Syndrome. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization.

SETD2 protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with …

2023年5月12日 · SETD2是一种RNA聚合酶II（Pol II）相关的组蛋白甲基转移酶，催化H3K36me2的甲基化，从而在转录活跃区域产生H3K36me3修饰。 SETD2是不同癌症类型中最常突变的染色质修饰基因之一，其中在肾透明细胞癌中有13%发生突变，并以截短突变（基因突变导致基因产物的缩短）为主。 原发性ccRCC（肾透明性细胞癌）肿瘤的基因组图谱显示SETD2突变与转移呈正相关。 然而，SETD2的丢失与否以及如何促进转移尚不清楚。 因此，该研究主要 …

2021年12月30日 · SETD2 neurodevelopmental disorders (SETD2-NDDs) represent a clinical spectrum that most commonly includes various degrees of intellectual disability and behavioral findings (most typically an autism spectrum disorder), macrocephaly with or without ventriculomegaly, brain malformations (including Chiari I malformation and syringomyelia), and ...

2025年2月5日 · SETD2 is the sole epigenetic factor responsible for catalyzing histone 3, lysine 36, tri-methylation (H3K36me3) in mammals. Its role in regulating cellular processes such as RNA splicing, DNA repair, and spurious transcription initiation underlies its …

SETD2与 亨廷顿蛋白 和肌动蛋白一起调节细胞迁移. 肌动蛋白构成细胞骨架的纤维，是SETD2的首要目标。Walker实验室最近的两篇论文揭示了SETD2在修饰肌动蛋白细胞骨架中的作用及其对癌细胞两种重要功能(细胞迁移和自噬)的影响。

2021年3月4日 · Our findings demonstrate that SETD2, by interacting with Pol II as well as hnRNP L, can mediate the crosstalk between the transcription and the splicing machinery. Alternative splicing (AS) of...

2019年4月29日 · In this study, we show that SETD2 is a key player that instructs the proper establishment of the mammalian oocyte epigenome. Importantly, maternal deficiency in SETD2 leads to sterility due to...

组蛋白甲基转移酶SETD2（SET domain-containing protein 2），是目前已知H3K36me3形成的唯一三甲基化酶。 目前已知SETD2/H3K36me3主要功能包括参与DNA损伤修复，维持染色质活跃状态、协助转录延伸从而促进基因转录水平。

2016年8月2日 · In this review we discuss the studies on the associated protein, Set domain containing 2 (SETD2), a histone modifier for which mutations have only recently been associated with cancer development. Our review starts with the structural characteristics of SETD2 and extends to its corresponding function by combining studies on SETD2 function in ...