Relevance to Autism

Heterozygous variants in the CSNK2B gene are responsible for Poirier-Bienvenu neurodevelopmental syndrome, a neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development (ID); autism spectrum disorder or autistic features have been observed in a subset of affected individuals (Poirier et al., 2017; Sakaguchi et al., 2017; Nakashima et al., 2019; Li et al., 2019; Ernst et al., 2021). Two de novo splice-site variants in the CSNK2B gene were reported in ASD probands in Zhou et al., 2022; a two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in this report identified CSNK2B as a gene reaching study-wide significance based on 5,754 constraint genes (P < 8.69E-06).

Molecular Function

This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus.

External Links

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