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 …

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 .

2021年12月30日 · SETD2 neurodevelopmental disorder (SETD2-NDD) with macrocephaly/overgrowth, the most common phenotype, can also include developmental delay / intellectual disability, obesity, advanced bone age, and behavioral findings (most typically an autism spectrum disorder).

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 …

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...

2021年3月4日 · Functionally, SETD2 regulates a subset of hnRNP L-targeted AS events. Our findings demonstrate that SETD2, by interacting with Pol II as well as hnRNP L, can mediate the crosstalk between the...

2021年6月14日 · Histone methyltransferase SETD2 plays a critical role in maintaining genomic integrity and stability. Here, we investigated the characteristics of SETD2 somatic mutation in the cancer genome...

2025年2月9日 · Results implicate SETD2 as a tumor suppressor gene and demonstrate that loss-of-function SETD2 mutations can facilitate the initiation and maintenance of leukemias with chromosomal translocations through a global reduction of H3K36me3.

SETD2, a methyltransferase that trimethylates histone H3 at lysine 36 (H3K36me3), has been found to be both mutated and deleted in select range of cancers suggesting a role in tumor suppression. In this review, we will discuss the range of SETD2 mutations and how disruption of this gene could foster the development of cancer.

2016年8月2日 · Recently, the first drugs have been reported that specifically target SETD2-negative tumors. 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.