Dec 25, 2024 · 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 .

Dec 30, 2021 · 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).

Jun 14, 2021 · 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...

Feb 5, 2025 · 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 …

We report a synthetic lethal interaction between inhibition of phosphatidylinositol 3-kinase beta (PI3Kβ) and loss of SETD2 methyltransferase.

Mar 4, 2021 · 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...

Apr 29, 2019 · 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...

Jun 6, 2022 · SETD2 (Set2 in yeast) is best known for associating with the transcription machinery and methylating histone H3 on lysine 36 (H3K36) during transcription. This well-characterized molecular function of SETD2 plays a role in fine-tuning transcription, maintaining chromatin integrity, and mRNA processing.

Sep 15, 2024 · SETD2 is generally considered a tumor suppressor with mutations or CNV in many tumors. SETD2 deficiency accelerates tumor initiation, progression, metastasis, and escape from immune surveillance.

Aug 2, 2016 · 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 …