Relevance to Autism

Numerous de novo variants in the SRRM2 gene have been identified in ASD probands, including two de novo loss-of-function (LoF) variants and a number of de novo missense variants (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015; Sanders et al., 2015; Yuen et al., 2016; Yuen et al., 2017; Turner et al., 2017; Takata et al., 2018; Feliciano et al., 2019; Satterstrom et al., 2020). Cuinat et al., 2022 reported 22 individuals with loss-of-function variants in SRRM2 presenting with a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, features of autism spectrum disorder or attention deficit hyperactivity disorder, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic facial features.

Molecular Function

Enables C2H2 zinc finger domain binding activity and protein N-terminus binding activity. Involved in mRNA splicing, via spliceosome. Located in Cajal body and nuclear speck. Part of U2-type catalytic step 2 spliceosome and U2-type precatalytic spliceosome. Biomarker of Parkinson's disease.

External Links

References