Relevance to Autism

A de novo damaging missense variant in the RNF25 gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a de novo likely gene-disruptive variant in this gene was identified in an ASD proband from the SPARK cohort (Feliciano et al., 2019). A meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified RNF25 as a gene with a false discovery rate 0.2.

Molecular Function

The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination.

External Links

References