Relevance to Autism

A de novo missense variant that was predicted to be damaging was observed in the ARID2 gene in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014, while a de novo splice-site variant in this gene was identified in an ASD proband from the ASPIRE cohort in Callaghan et al., 2019. Heterozygous variants in the ARID2 gene are also associated with a form of Coffin-Siris syndrome (Coffin-Siris syndrome 6; OMIM 617808); in addition to intellectual disability and dysmorphic features, individuals with this syndrome frequently present with behavioral abnormalities such as ADHD, tics, and autistic behavior such as routine-driven and/or rigid behavior and hand-flapping (Shang et al., 2015; Branswig et al., 2017; Van Paemel et al., 2017; Gazdagh et al., 2019).

Molecular Function

This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors.

External Links

References