PPFIA2
PTPRF Interacting Protein Alpha 2
Gene Information Card
| Symbol | PPFIA2 |
|---|---|
| Full Name | PTPRF Interacting Protein Alpha 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.31 |
| NCBI Gene ID | 8499 ncbi.nlm.nih.gov/gene/8499 |
| Ensembl ID | ENSG00000139220 |
| UniProt ID | O75334 |
| OMIM ID | 603144 |
| HGNC ID | 9247 |
| Aliases | liprin-alpha-2, LIPRIN2, LAR-interacting protein 2 |
Description
PPFIA2 encodes liprin-alpha-2, a member of the liprin family of proteins that interact with the cytoplasmic domain of protein tyrosine phosphatase receptor type F (PTPRF). Liprin-alpha-2 is involved in the regulation of cell adhesion, synaptic vesicle trafficking, and the formation of presynaptic active zones. It plays a role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PPFIA2 overexpression may promote tumor cell migration and invasion through altered cell adhesion signaling. | COSMIC, NCBI |
| Colorectal cancer | Somatic mutations and altered expression of PPFIA2 have been reported, potentially affecting cell polarity and proliferation. | COSMIC, ClinVar |
| Neurodevelopmental disorders | Rare variants in PPFIA2 are associated with intellectual disability and autism spectrum disorder, likely due to disrupted synaptic function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 6.8 | Medium |
| Lung | 3.2 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line, high expression |
| HEK293 | 4.5 | Embryonic kidney, moderate expression |
| MCF7 | 2.8 | Breast cancer, low 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% | Unknown functional effect, reported in ClinVar |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | <0.001% | Predicted loss of function, associated with neurodevelopmental disorder |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Reported in COSMIC, somatic in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, leading to reduced liprin-alpha-2 activity and impaired synaptic signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations have been reported for PPFIA2.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by disrupting protein-protein interactions, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • synaptic vesicle transport |
| • protein tyrosine phosphatase binding | • presynaptic active zone assembly |
| • axon guidance |
Pathways
• LAR signaling pathway
• Synaptic vesicle cycle
• Cell adhesion molecules (CAMs)
Protein Summary
Liprin-alpha-2 is a 120 kDa protein that contains coiled-coil domains and a SAM domain. It localizes to focal adhesions and presynaptic terminals, where it interacts with PTPRF and other proteins to regulate cell-matrix adhesion and neurotransmitter release. Its expression is enriched in the nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPFIA2 Knockout HEK293 Cell Line | EDJ-KQ6256 | Human | 8499 | Details Get a Quote |
| PPFIA2 Knockout HeLa Cell Line | EDJ-KQ54921 | Human | 8499 | Details Get a Quote |
| PPFIA2 Knockout A-549 Cell Line | EDJ-KQ63408 | Human | 8499 | Details Get a Quote |
| PPFIA2 Knockout HCT 116 Cell Line | EDJ-KQ71873 | Human | 8499 | Details Get a Quote |
