A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases for the SPARK cohort, in Zhou et al., 2022 identified MARK2 as a gene reaching exome-wide significance (P < 2.5E-06); association of MARK2 with ASD risk was primarily driven by de novo variants. A de novo missense variant in MARK2 was also identified in an ASD proband from the SAGE cohort in Guo et al., 2019.
Molecular Function
This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes.
