PTBP2: Polypyrimidine Tract Binding Protein 2
A key regulator of alternative splicing in neuronal development and cancer
Gene Information Card
| Symbol | PTBP2 |
|---|---|
| Full Name | Polypyrimidine Tract Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p21.3 |
| NCBI Gene ID | 58155 ncbi.nlm.nih.gov/gene/58155 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9UKA9 |
| OMIM ID | 608449 |
| HGNC ID | 9589 |
| Aliases | PTB2, nPTB, brPTB, FLJ20859 |
Description
PTBP2 (polypyrimidine tract binding protein 2) encodes a member of the polypyrimidine tract-binding protein family. This RNA-binding protein regulates alternative splicing, particularly in neurons, by binding to intronic polypyrimidine tracts. PTBP2 is essential for neuronal differentiation and development, and its dysregulation is implicated in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | PTBP2 overexpression promotes tumor cell proliferation and migration by altering splicing of oncogenic transcripts. | PMID: 25637657 |
| Breast cancer | PTBP2 upregulation correlates with poor prognosis and enhances metastasis via alternative splicing of CD44. | PMID: 29713084 |
| Colorectal cancer | PTBP2 knockdown reduces cell viability and induces apoptosis through splicing regulation of BCL2 family members. | PMID: 31061432 |
| Autism spectrum disorder | PTBP2 variants identified in patients may disrupt neuronal splicing networks. | ClinVar: RCV000169891 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.2 | High |
| Testis | 12.5 | Medium |
| Lung | 6.8 | Low |
| Liver | 3.1 | Low |
| Heart | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.0 | Neuronal model |
| HeLa (cervical carcinoma) | 22.3 | Epithelial |
| MCF7 (breast cancer) | 18.7 | Luminal A |
| A549 (lung cancer) | 9.2 | Lung adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.01% | Altered RNA binding affinity; associated with neurodevelopmental delay |
| c.1456G>A (p.Gly486Ser) | Missense | 0.005% | Reduced splicing regulatory activity |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | <0.001% | Loss of function; reported in autism |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, reducing RNA binding and splicing regulation.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance binding to specific targets.
Dominant Negative (DN)
Not reported for PTBP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alternative splicing (Reactome: R-HSA-72163)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Gene expression (Transcription) (KEGG: hsa03040)
Protein Summary
PTBP2 is a 531-amino acid RNA-binding protein containing four RRM (RNA recognition motif) domains. It shuttles between nucleus and cytoplasm, preferentially binding to CU-rich polypyrimidine tracts in pre-mRNA introns. PTBP2 acts as a repressor of exon inclusion in many neuronal transcripts, and its expression is critical for neuronal maturation. In cancer, PTBP2 is often upregulated, promoting a more aggressive phenotype through alternative splicing of genes involved in cell adhesion, apoptosis, and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTBP2 Knockout HEK293 Cell Line | EDJ-KQ12194 | Human | 58155 | Details Get a Quote |
| PTBP2 Knockout HCT 116 Cell Line | EDJ-KQ40917 | Human | 58155 | Details Get a Quote |
| PTBP2 Knockout HeLa Cell Line | EDJ-KQ40918 | Human | 58155 | Details Get a Quote |
| PTBP2 Knockout A-549 Cell Line | EDJ-KQ40916 | Human | 58155 | Details Get a Quote |
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