PPFIA2 Gene Summary [Human]
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Details
| Type | Protein Coding |
| Official Symbol | PPFIA2 |
| Official Name | PTPRF interacting protein alpha 2 [Source:HGNC Symbol;Acc:HGNC:9246] |
| Ensembl ID | ENSG00000139220 |
| Bio databases IDs | |
| Aliases | PTPRF interacting protein alpha 2, Liprin-alpha2 |
| Synonyms | 5330438O12, B230207K17RIK, E130120L08RIK, Liprin alpha2, mKIAA4112, protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2, protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), α 2, PTPRF interacting protein alpha 2, PTPRF interacting protein α 2 |
| 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 PPFIA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ciliary protein causing Leber congenital amaurosis disease
- SAM domain
- coiled-coil domain
- Bin/Amphiphysin/Rvs domain
- Laminin Domain I
- Sterile alpha motif
- SAM domain (Sterile alpha motif)
- Family with sequence similarity 184, A and B
- phosphatase
- liprin homology domain
- SPEC
- Crescentin protein
- RNase Y N-terminal region
- Tropomyosin like
- Ezrin/radixin/moesin, alpha-helical domain
- PspA/IM30 family
- SAM (Sterile alpha motif )
- protein binding
- PLC-beta C terminal
- Domain of unknown function (DUF4659)
- Alpha helical coiled-coil rod protein (HCR)
- Mechanosensitive ion channel porin domain
- RIM-binding protein of the cytomatrix active zone
- binding protein
- Trichohyalin-plectin-homology domain
- Growth-arrest specific micro-tubule binding
- structural molecule
- Domain of unknown function (DUF4472)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- organelle
- Cytoplasm
- cell surface
- cytosol
- presynaptic membrane
- dendritic spines
- synaptic vesicles
- synapse
- neuritic shafts
- ruffled borders
- filopodia
- perikaryon
- axons
- dendrites
- postsynaptic density
- perforated synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PPFIA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- regulation of dendritic spine morphogenesis
- synapse organization
- regulation of synaptic vesicle exocytosis
- regulation of dendritic spine development
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- extracellular vesicular exosome
- presynaptic active zone
- cytoplasm
- synaptic vesicle
- dendritic spine
- cytosol
- axon
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding