Relevance to Autism

A de novo splice-site variant in the RNF38 gene was identified in an ASD proband from the Simons Simplex Collection in Sanders et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified a rare inherited damaging missense variant in this gene in a Chinese ASD proband. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of Chinese ASD cases and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified RNF38 as an ASD candidate gene with a PTADA of 0.009043.

Molecular Function

This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. The protein encoded by the RNF38 gene acts as an E3 ubiquitin-protein ligase able to ubiquitinate p53/TP53 which promotes its relocalization to discrete foci associated with PML nuclear bodies.

External Links

References