U4 small nuclear RNA 2 (RNU4-2)

U4 small nuclear RNA 2 (RNU4-2) is a non-coding small nuclear RNA that forms a core component of the major spliceosome complex, specifically as part of the U4/U6.U5 tri-snRNP, one of the five essential small nuclear ribonucleoproteins required for eukaryotic precursor mRNA (pre-mRNA) splicing[1][2][4]. RNU4-2 is highly expressed in human brain compared to other U4 homologues and is critical in maintaining the correct folding and enabling interactions between U4 and U6 snRNAs, which are essential for the catalytic activation and fidelity of nuclear pre-mRNA splicing[4]. Mutations in RNU4-2 cause ReNU syndrome, an autosomal dominant syndromic neurodevelopmental disorder associated with intellectual disability, brain abnormalities, hypotonia, developmental delay, autism spectrum disorder, and epilepsy[1][2][3][4]. Disease-causing mutations affect a highly conserved 18 base pair region necessary for proper U4/U6 duplex interaction[4]. Because RNU4-2 encodes a structural, non-protein-coding RNA within the major spliceosome rather than acting as a druggable receptor, transporter, or enzyme, it is not considered a therapeutic target, and there are currently no interacting drugs or direct therapeutic interventions targeting this RNA described in the literature[4][3].

Other names

U4cU4bU4ANEDHAFARENURNU4-1BRNU4B1RNU4CRNA, U4 small nuclear 1BRNA, U4B1 small nuclearRNA, U4C small nuclearRNU4-2