PTPN12
Protein Tyrosine Phosphatase Non-Receptor Type 12
Gene Information Card
| Symbol | PTPN12 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Non-Receptor Type 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 5782 ncbi.nlm.nih.gov/gene/5782 |
| Ensembl ID | ENSG00000127948 |
| UniProt ID | Q05209 |
| OMIM ID | 600015 |
| HGNC ID | 9645 |
| Aliases | PTP-PEST, PTPG1 |
Description
PTPN12 encodes a member of the protein tyrosine phosphatase (PTP) family, specifically a non-receptor type phosphatase known as PTP-PEST. This enzyme dephosphorylates tyrosine residues on target proteins, regulating cell adhesion, migration, proliferation, and cytoskeletal dynamics. PTPN12 is widely expressed and functions as a tumor suppressor in multiple cancer types, particularly breast and lung cancer, by inactivating oncogenic signaling pathways such as those mediated by EGFR and HER2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of PTPN12 expression leads to increased phosphorylation of oncogenic substrates (e.g., p130Cas, EGFR), promoting cell migration and invasion. | ClinVar, COSMIC, PMID: 21572415 |
| Lung cancer | Reduced PTPN12 activity correlates with enhanced tumor growth and metastasis via deregulated focal adhesion signaling. | COSMIC, PMID: 23934125 |
| Colorectal cancer | PTPN12 downregulation is associated with poor prognosis and increased Wnt/β-catenin signaling. | COSMIC, PMID: 26030179 |
| Hepatocellular carcinoma | PTPN12 methylation and silencing contribute to tumor progression. | COSMIC, PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Lung | 9.8 | Medium |
| Colon | 8.2 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
| Heart | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 14.2 | Moderate expression |
| A549 (lung cancer) | 11.5 | Moderate expression |
| HCT116 (colorectal cancer) | 9.0 | Moderate expression |
| HEK293 (embryonic kidney) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | <0.1% | Loss of function; truncation of phosphatase domain |
| c.1456G>A (p.Gly486Arg) | Missense | <0.1% | Likely loss of function; impaired catalytic activity |
| c.789_790del (p.Glu264fs) | Frameshift | <0.1% | Loss of function; premature termination |
| c.2017C>T (p.Arg673Cys) | Missense | <0.1% | Uncertain significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg375Ter, p.Glu264fs) result in truncated, non-functional protein. Missense mutations in the catalytic domain (e.g., p.Gly486Arg) impair phosphatase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PTPN12.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PTPN12.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • dephosphorylation |
| • cell migration | • cell adhesion |
| • cytoskeleton organization | • negative regulation of cell proliferation |
| • signal transduction |
Pathways
• EGFR tyrosine kinase inhibitor resistance
• Focal adhesion
• Regulation of actin cytoskeleton
• ErbB signaling pathway
Protein Summary
PTPN12 (PTP-PEST) is a 780-amino acid non-receptor tyrosine phosphatase containing an N-terminal catalytic domain and a C-terminal proline-rich region that mediates interactions with SH3 domain-containing proteins. It dephosphorylates key substrates such as p130Cas, Paxillin, and FAK, thereby negatively regulating cell migration and adhesion. Loss of PTPN12 function is implicated in tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPN12 Knockout HEK293 Cell Line | EDJ-KQ2400 | Human | 5782 | Details Get a Quote |
| PTPN12 Knockout A-549 Cell Line | EDJ-KQ24260 | Human | 5782 | Details Get a Quote |
| PTPN12 Knockout HCT 116 Cell Line | EDJ-KQ24261 | Human | 5782 | Details Get a Quote |
| PTPN12 Knockout HeLa Cell Line | EDJ-KQ24262 | Human | 5782 | Details Get a Quote |
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