PCBP2 (Poly(RC) Binding Protein 2): Gene, Function, and Disease Associations
A comprehensive overview of PCBP2, a multifunctional RNA-binding protein involved in mRNA stability, translational regulation, and viral immune evasion.
Gene Information Card
| Symbol | PCBP2 |
|---|---|
| Full Name | Poly(rC) binding protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 5094 ncbi.nlm.nih.gov/gene/5094 |
| Ensembl ID | ENSG00000132514 |
| UniProt ID | Q15366 |
| OMIM ID | 605281 |
| HGNC ID | 8648 |
| Aliases | HNRNPE2, HNRPE2, MGC110995, dJ106I20.3 |
Description
PCBP2 (Poly(rC) binding protein 2) is a member of the poly(C) binding protein family, which contains three KH domains that bind to poly(C) sequences in RNA. It is involved in multiple aspects of RNA metabolism, including mRNA stabilization, translational regulation, and splicing. PCBP2 also plays a critical role in the cellular response to viral infection by modulating innate immune signaling pathways, particularly through its interaction with MAVS and RIG-I. The gene is located on chromosome 12q13.13 and is widely expressed across tissues. Mutations and altered expression of PCBP2 have been linked to various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | PCBP2 overexpression promotes tumor cell proliferation and metastasis by stabilizing oncogenic mRNAs and enhancing epithelial-mesenchymal transition (EMT). | PMID: 29263242; COSMIC overexpression data |
| Gastric cancer | PCBP2 upregulation correlates with poor prognosis; it enhances cancer cell invasion via regulation of MMP2/MMP9 expression. | PMID: 30314922; ClinVar somatic variants |
| Viral infections (e.g., HCV, influenza) | PCBP2 negatively regulates RIG-I-mediated antiviral signaling by promoting MAVS degradation, thereby facilitating viral immune evasion. | PMID: 19609254; UniProt function annotation |
| Neuroblastoma | PCBP2 expression is associated with MYCN amplification and contributes to tumor aggressiveness. | PMID: 24662918; COSMIC copy number alterations |
| Colorectal cancer | PCBP2 promotes chemoresistance by stabilizing MDR1 mRNA, leading to increased drug efflux. | PMID: 27633024; ClinVar somatic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 10.1 | Medium |
| Heart | 6.5 | Low |
| Lung | 9.4 | Medium |
| Testis | 14.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.6 | Cervical carcinoma; high expression |
| HepG2 | 12.8 | Hepatocellular carcinoma; moderate-high |
| A549 | 10.3 | Lung carcinoma; moderate |
| MCF7 | 8.9 | Breast carcinoma; moderate |
| K562 | 7.2 | Chronic myelogenous leukemia; low-moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Ser41Phe) | Missense | 0.01% (COSMIC) | Alters RNA-binding affinity; potential impact on mRNA stability regulation |
| c.456_458del (p.Lys152del) | In-frame deletion | 0.005% (COSMIC) | Disrupts KH2 domain; may affect poly(C) binding |
| c.789G>A (p.Arg263His) | Missense | 0.02% (ClinVar) | Located in KH3 domain; possibly affects protein-protein interactions |
| c.1024C>T (p.Arg342Ter) | Nonsense | 0.001% (COSMIC) | Truncated protein; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that produce truncated PCBP2 lacking functional KH domains are expected to cause loss of RNA-binding activity, impairing mRNA stabilization and translational regulation.
Gain of Function (GOF)
Missense mutations that increase PCBP2 stability or enhance its binding to oncogenic mRNAs could lead to gain-of-function effects, promoting tumor progression.
Dominant Negative (DN)
Mutations that disrupt one KH domain but retain partial binding may interfere with wild-type PCBP2 function, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RIG-I-like receptor signaling pathway (KEGG hsa04622)
• mRNA surveillance pathway (KEGG hsa03015)
• MicroRNAs in cancer (KEGG hsa05206)
• Hepatitis C and influenza A viral infection pathways (KEGG hsa05160
• hsa05164)
• Regulation of mRNA stability by proteins that bind AU-rich elements (Reactome: R-HSA-450531)
Protein Summary
PCBP2 is a 365-amino acid protein with three KH domains that mediate binding to poly(C) sequences in RNA. It is predominantly cytoplasmic but can shuttle to the nucleus. PCBP2 functions as a chaperone for mRNA, protecting transcripts from degradation and modulating translation. It also interacts with viral RNA and host proteins such as MAVS and RIG-I to regulate innate immune responses. Post-translational modifications, including phosphorylation and ubiquitination, influence its stability and function. PCBP2 is essential for normal cellular processes, and its dysregulation contributes to cancer and viral pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCBP2 Knockout HEK293 Cell Line | EDJ-KQ50501 | Human | 5094 | Details Get a Quote |
| PCBP2 Knockout HeLa Cell Line | EDJ-KQ54087 | Human | 5094 | Details Get a Quote |
| PCBP2 Knockout A-549 Cell Line | EDJ-KQ62575 | Human | 5094 | Details Get a Quote |
| PCBP2 Knockout HCT 116 Cell Line | EDJ-KQ71045 | Human | 5094 | Details Get a Quote |
