PTPN4: Protein Tyrosine Phosphatase Non-Receptor Type 4
A non-receptor tyrosine phosphatase involved in immune signaling and neurodevelopment, with implications in cancer and neurological disorders.
Gene Information Card
| Symbol | PTPN4 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Non-Receptor Type 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.2 |
| NCBI Gene ID | 5775 ncbi.nlm.nih.gov/gene/5775 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | P29074 |
| OMIM ID | 176878 |
| HGNC ID | 9656 |
| Aliases | PTP-MEG1, MEG, PTPMEG |
Description
PTPN4 encodes a non-receptor protein tyrosine phosphatase (PTP) that belongs to the PTP family. The protein contains a N-terminal FERM domain and a C-terminal catalytic phosphatase domain. It is involved in the regulation of cell growth, differentiation, and immune responses. PTPN4 is known to interact with and dephosphorylate various substrates, including the glutamate receptor subunit GluN2B, and plays a role in synaptic function and neurodevelopment. It also modulates T-cell receptor signaling and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of PTPN4 expression or activity may alter cell proliferation and survival pathways. | COSMIC; literature |
| Neurodevelopmental disorders | PTPN4 interacts with GluN2B; mutations may affect synaptic plasticity. | OMIM; literature |
| Immune system disorders | PTPN4 modulates T-cell receptor signaling; altered function may contribute to autoimmunity. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Spleen | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney; moderate expression |
| HeLa | 9.5 | Cervical cancer; low expression |
| K562 | 7.8 | Leukemia; low expression |
| SH-SY5Y | 18.3 | Neuroblastoma; high expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; premature stop |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Unknown; potential impact on catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated, non-functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • dephosphorylation |
| • FERM domain binding | • cell adhesion |
| • synaptic signaling | • regulation of T cell activation |
Pathways
• T cell receptor signaling pathway
• Neurotrophin signaling pathway
• Glutamatergic synapse
Protein Summary
PTPN4 is a 926-amino acid protein with a FERM domain (residues 1-300) and a tyrosine phosphatase domain (residues 600-900). It localizes to the cytoplasm and cell membrane. The FERM domain mediates interactions with membrane proteins, while the phosphatase domain dephosphorylates phosphotyrosine residues on substrates such as GluN2B and ITK. PTPN4 regulates synaptic transmission and T-cell activation. Alternative splicing produces multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPN4 Knockout HEK293 Cell Line | EDJ-KQ5597 | Human | 5775 | Details Get a Quote |
| PTPN4 Knockout A-549 Cell Line | EDJ-KQ28875 | Human | 5775 | Details Get a Quote |
| PTPN4 Knockout HCT 116 Cell Line | EDJ-KQ28876 | Human | 5775 | Details Get a Quote |
| PTPN4 Knockout HeLa Cell Line | EDJ-KQ28877 | Human | 5775 | Details Get a Quote |
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