Relevance to Autism

A de novo loss-of-function variant in the ELAVL2 gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). RNAi-mediated knockdown on ELAVL2 in primary human neurons and RNA sequencing identified a number of alternatively spliced transcripts downstream of ELAVL2 that overlap with RBFOX1 targets as well as targets of FMR1, as well as alternatively spliced and differentially expressed genes downstream of ELAVL2 that corresponded to a number of known ASD risk genes and genes that encode synaptic proteins (Berto et al., 2016).

Molecular Function

The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA.

External Links

References