CPEB4cytoplasmic polyadenylation element binding protein 4
Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants-
AliasesCPEB4, CPE-BP4, hCPEB-4
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.
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.
Reports related to CPEB4 (1 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing.||Parras A , et al. (2018)||Yes||-|
CNVs associated with CPEB4(1 CNVs)
|5q35.2||15||Deletion-Duplication||26 / 70|