Relevance to Autism

Chen et al., 2025 integrated cortex cell-specific cis-regulatory element annotations, a deep learning-based variant prediction model, and massively parallel reporter assays to systematically evaluate the functional impact of 227,878 non-coding de novo mutations (ncDNMs) in ASD probands from Simons Simplex Collection (SSC) and Autism Speaks MSSNG resource (MSSNG) cohorts and identified a ncDNM that down-regulated expression of the PTPRS gene in a MSSNG proband. Additional de novo variants in the PTPRS gene, including a loss-of-function variant and four missense variants, have been identified in ASD probands (Iossifov et al., 2014; Krumm et al., 2015; Satterstrom et al., 2020; Zhou et al., 2022; Fu et al., 2022; Trost et al., 2022).

Molecular Function

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis and has also been implicated in the molecular control of adult nerve repair (Thompson et al., 2003 found that mice lacking RPTPsigma exhibited an accelerated rate of functional recovery following facial nerve crush, and Kirkham et al., 2006 found that neural stem cells from protein tyrosine

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