Relevance to Autism

Two de novo variants (one frameshift variant, one missense variant) were observed in the TSPAN4 gene in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014, while a paternally-transmitted frameshift variant in this gene was observed in two of three affected siblings from a multiplex family from the iHART cohort in Ruzzo et al., 2019. Two separate studies used TADA analysis to identify TSPAN4 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019; Ruzzo et al., 2019).

Molecular Function

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins.

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