Human Gene Module / Chromosome 5 / CPEB4

CPEB4cytoplasmic polyadenylation element binding protein 4

Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
Associated Syndromes
Genetic Category
Chromosome Band
Associated Disorders
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.

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
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