PPFIBP2 Gene - PTPRF Interacting Protein Binding Protein 2
Comprehensive genomic and functional analysis of PPFIBP2, a gene encoding a protein involved in cell adhesion and signaling.
Gene Information Card
| Symbol | PPFIBP2 |
|---|---|
| Full Name | PTPRF interacting protein binding protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 8495 ncbi.nlm.nih.gov/gene/8495 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q8ND30 |
| OMIM ID | 608351 |
| HGNC ID | 9249 |
| Aliases | LIPRIN, LIPRIN-BETA-2, PPFIBP2, SGC32410 |
Description
PPFIBP2 (PTPRF interacting protein binding protein 2) is a protein-coding gene located on chromosome 11p15.4. It encodes liprin-beta-2, a member of the liprin family that interacts with the cytoplasmic domain of PTPRF (protein tyrosine phosphatase receptor type F). Liprin-beta-2 is involved in cell adhesion, cytoskeletal organization, and synaptic vesicle trafficking. The gene is expressed in multiple tissues, with highest levels in the brain and testis. Mutations in PPFIBP2 have been associated with neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Disruption of synaptic protein interactions | Case reports (ClinVar) |
| Colorectal cancer | Altered cell adhesion signaling | Somatic mutation studies (COSMIC) |
| Breast cancer | Potential tumor suppressor role | Expression and mutation analysis (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HeLa (cervical carcinoma) | 6.7 | Epithelial |
| HEK293 (embryonic kidney) | 5.0 | Transformed |
| MCF7 (breast cancer) | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
| c.890G>A (p.Arg297Gln) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature termination codons and likely nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cell adhesion (GO:0007155) |
| • cell junction (GO:0030054) | • neuron projection development (GO:0031175) |
| • synapse (GO:0045202) |
Pathways
• Cell adhesion molecules (CAMs) - Reactome R-HSA-1500931
• Signaling by Receptor Tyrosine Kinases - Reactome R-HSA-9006934
Protein Summary
The PPFIBP2 protein, also known as liprin-beta-2, is a 1117-amino acid protein that contains a coiled-coil domain and a SAM domain. It localizes to cell junctions and synapses, where it mediates interactions between PTPRF and other scaffolding proteins. Liprin-beta-2 is involved in the regulation of cell adhesion, cytoskeletal dynamics, and neurotransmitter release. Its expression is enriched in neuronal tissues, and alterations in its function are linked to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPFIBP2 Knockout HEK293 Cell Line | EDJ-KQ6253 | Human | 8495 | Details Get a Quote |
| PPFIBP2 Knockout A-549 Cell Line | EDJ-KQ30122 | Human | 8495 | Details Get a Quote |
| PPFIBP2 Knockout HCT 116 Cell Line | EDJ-KQ30123 | Human | 8495 | Details Get a Quote |
| PPFIBP2 Knockout HeLa Cell Line | EDJ-KQ54919 | Human | 8495 | Details Get a Quote |
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