Aliases: CPE-BP4, hCPEB-4
Chromosome No: 5
Chromosome Band: 5q35.2
Genetic Category: Functional-Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 6
Evidence score: 2
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Relevance to Autism
Parras et al., 2018 reported that: (1) CPEB4 bound to the transcripts of a number of high-confidence ASD risk genes, including AUTS2, DYRK1A, CUL3, and PTCHD1; (2) the brains of idiopathic ASD cases showed imbalances in CPEB4 transcript isoforms that resulted from decreased inclusion of a neuron-specific microexon and reduced poly (A)-tail length in 9% of the transcriptome, with this percentage being much higher for high-confidence ASD risk genes, correlating with reduced expression of the protein products of these risk genes; and (3) tgCPEB44 mice showed ASD-like polyadenylation and protein expression changes, as well as ASD-related neuroanatomical, electrophysiological and behavioral phenotypes.
Molecular Function
This gene encodes a sequence-specific RNA-binding protein that binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'-UTR.
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