CPEB4
Cytoplasmic polyadenylation element-binding protein 4
Gene Information Card
| Symbol | CPEB4 |
|---|---|
| Full Name | cytoplasmic polyadenylation element binding protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 80315 ncbi.nlm.nih.gov/gene/80315 |
| Ensembl ID | ENSG00000113742 |
| UniProt ID | Q17RY0 |
| OMIM ID | 607565 |
| HGNC ID | 21746 |
| Aliases | CPEB-4, CPE-BP4, KIAA1673 |
Description
CPEB4 encodes a member of the cytoplasmic polyadenylation element-binding protein family. These proteins bind to cytoplasmic polyadenylation elements (CPEs) in the 3' UTR of mRNAs and regulate translation by controlling polyadenylation. CPEB4 is involved in cell cycle progression, neuronal plasticity, and cancer development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | CPEB4 overexpression promotes tumor growth and invasion via enhanced translation of oncogenic mRNAs | PMID: 25643317 |
| Breast cancer | CPEB4 regulates epithelial-mesenchymal transition and metastasis | PMID: 27626308 |
| Neurodevelopmental disorders | CPEB4 variants associated with intellectual disability and autism spectrum disorder | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Ovary | 6.1 | Medium |
| Lung | 4.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | High expression |
| HeLa | 7.8 | Moderate expression |
| U87MG (glioblastoma) | 15.2 | Overexpressed |
| MCF7 | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Altered RNA-binding affinity |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.01% | Impaired cytoplasmic localization |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations reduce CPEB4's ability to bind CPE elements, leading to decreased translation of target mRNAs.
Gain of Function (GOF)
Gain-of-function mutations enhance CPEB4 activity, promoting oncogenic translation programs.
Dominant Negative (DN)
Dominant-negative mutations interfere with wild-type CPEB4 function, disrupting normal translational regulation.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • cytoplasmic polyadenylation element binding |
| • translation regulator activity | • mRNA 3'-UTR binding |
| • regulation of translation |
Pathways
• mRNA surveillance pathway
• Translational regulation by CPEB proteins
• Regulation of mRNA stability and translation
Protein Summary
CPEB4 is a 729-amino acid RNA-binding protein that contains two RNA recognition motifs (RRMs) and a zinc-finger domain. It shuttles between the nucleus and cytoplasm and regulates translation by promoting cytoplasmic polyadenylation of target mRNAs. CPEB4 is highly expressed in the brain and testis and plays critical roles in synaptic plasticity, cell cycle control, and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPEB4 Knockout HEK293 Cell Line | EDJ-KQ9519 | Human | 80315 | Details Get a Quote |
| CPEB4 Knockout A-549 Cell Line | EDJ-KQ36276 | Human | 80315 | Details Get a Quote |
| CPEB4 Knockout HCT 116 Cell Line | EDJ-KQ36277 | Human | 80315 | Details Get a Quote |
| CPEB4 Knockout HeLa Cell Line | EDJ-KQ36278 | Human | 80315 | Details Get a Quote |
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