Histone-lysine N-methyltransferase SETD5 (SETD5)

Histone-lysine N-methyltransferase SETD5 is an enzyme with a SET domain responsible for methylating histone H3 at lysine 36 (H3K36me3), thereby regulating gene expression and chromatin structure necessary for neurodevelopment[1][2][3]. SETD5 is located on chromosome 3p25 and is often mutated in intellectual disability, autism, and congenital malformations including facial dysmorphisms and congenital heart defects[1][2][3]. SETD5 haploinsufficiency disrupts normal neuronal proliferation, differentiation, and synaptic formation, leading to neurodevelopmental disorders. Dysregulation of SETD5 is also implicated in various cancers, where its up-regulation promotes tumor cell stemness, metastasis, and adverse prognosis, positioning it as a candidate for biomarker development and future drug targeting[1]. SETD5 participates in essential epigenetic mechanisms by interacting with chromatin remodeling factors, key transcriptional regulators, and pathways such as AKT1 and EP300/HIF-1α signaling involved in cancer cell metabolism[1]. No drugs are currently approved for direct modulation of SETD5, and its safety concerns focus on mutation-related developmental syndromes and cancer aggressiveness[1][2][3].

Other names

SETD5KIAA1757FLJ10707SET domain-containing protein 5MRD23SETD5A