PTBP2 Gene Summary [Human]
The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PTBP2 |
| Official Name | polypyrimidine tract binding protein 2 [Source:HGNC Symbol;Acc:HGNC:17662] |
| Ensembl ID | ENSG00000117569 |
| Bio databases IDs | |
| Aliases | polypyrimidine tract binding protein 2 |
| Synonyms | brPTB, nPTB, polypyrimidine tract binding protein 2, PTB2, PTBLP, PTBLP-L, PTBLP-S |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PTBP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RRM-like domain
- RNA recognition motif (RRM) superfamily
- hnRNP-L/PTB/hephaestus splicing factor family
- RNA recognition motif
- mRNA binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- progressive supranuclear palsy
- respiratory failure
- obesity
- neurodegeneration
- paralysis
role in cell
- formation in
- expression in
- proliferation
- formation
- alternative splicing in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- spliceosomes
- nucleoli
- growth cone
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTBP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of RNA splicing
- mRNA splice site selection
- regulation of neural precursor cell proliferation
- negative regulation of RNA splicing
Cellular Component
Where in the cell the gene product is active
- nucleus
- spliceosomal complex
Molecular Function
What the gene product does at the molecular level
- RNA binding
- mRNA binding