PTPN14 (Protein Tyrosine Phosphatase Non-Receptor Type 14)
A non-receptor protein tyrosine phosphatase involved in cell growth, differentiation, and cancer, with emerging roles in Hippo signaling and tumor suppression.
Gene Information Card
| Symbol | PTPN14 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Non-Receptor Type 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 5784 ncbi.nlm.nih.gov/gene/5784 |
| Ensembl ID | ENSG00000152104 |
| UniProt ID | Q15678 |
| OMIM ID | 603267 |
| HGNC ID | 9648 |
| Aliases | PEZ, PTPD2, PTP36 |
Description
PTPN14 encodes a non-receptor protein tyrosine phosphatase that regulates various cellular processes including cell proliferation, differentiation, and migration. It is involved in the Hippo signaling pathway, where it modulates YAP1 activity, and has been implicated in tumor suppression. Mutations and altered expression of PTPN14 have been associated with several cancers, including breast, colorectal, and lung cancers, as well as developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of PTPN14 expression leads to increased YAP1 nuclear localization and transcriptional activity, promoting cell proliferation and invasion. | COSMIC, ClinVar, literature |
| Colorectal cancer | Somatic mutations and reduced expression of PTPN14 are associated with tumor progression and poor prognosis. | COSMIC, ClinVar, literature |
| Lung cancer | PTPN14 downregulation correlates with aggressive tumor features and activation of oncogenic pathways. | COSMIC, literature |
| Hepatocellular carcinoma | PTPN14 acts as a tumor suppressor by inhibiting YAP1; its loss promotes tumor growth. | COSMIC, literature |
| Developmental disorders (e.g., lymphedema) | Homozygous loss-of-function mutations in PTPN14 cause autosomal recessive lymphedema, likely due to disrupted Hippo signaling. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 22.4 | Medium |
| Liver | 18.7 | Medium |
| Lung | 15.3 | Medium |
| Breast | 12.1 | Low |
| Colon | 10.8 | Low |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.3 | Embryonic kidney cells; moderate expression |
| MCF7 | 15.8 | Breast cancer cell line; reduced expression compared to normal breast |
| A549 | 12.4 | Lung carcinoma; low expression |
| HCT116 | 18.9 | Colorectal carcinoma; moderate expression |
| HepG2 | 20.1 | Hepatocellular carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2222G>A (p.Arg741His) | Missense | Rare (0.01% in gnomAD) | Unknown; predicted possibly damaging |
| c.1534C>T (p.Arg512Ter) | Nonsense | Somatic in cancer | Loss of function; truncation |
| c.1960delA (p.Thr654ProfsTer23) | Frameshift | Somatic in cancer | Loss of function; premature stop |
| c.1003C>T (p.Arg335Ter) | Nonsense | Germline in lymphedema | Loss of function; associated with lymphedema |
Mutation functional classification
Loss of Function (LOF)
Most PTPN14 mutations in cancer are loss-of-function, leading to reduced phosphatase activity or protein truncation, which impairs its tumor suppressor role and enhances YAP1 activity.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for PTPN14.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with dimerization or substrate binding, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • protein binding |
| • phosphatase activity | • regulation of cell population proliferation |
| • negative regulation of cell migration | • Hippo signaling |
| • signal transduction | • dephosphorylation |
Pathways
• Hippo signaling pathway
• Signaling by Receptor Tyrosine Kinases
• Regulation of YAP1 activity
Protein Summary
PTPN14 is a 1214-amino acid protein with a single catalytic domain and multiple proline-rich regions. It localizes to the cytoplasm and cell membrane, and interacts with YAP1 to regulate its phosphorylation and nuclear localization. Through this interaction, PTPN14 modulates gene expression involved in cell growth and apoptosis. Its expression is widespread, with higher levels in kidney and liver. Loss of PTPN14 function is associated with tumor progression and developmental defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPN14 Knockout HEK293 Cell Line | EDJ-KQ4834 | Human | 5784 | Details Get a Quote |
| PTPN14 Knockout A-549 Cell Line | EDJ-KQ28865 | Human | 5784 | Details Get a Quote |
| PTPN14 Knockout HCT 116 Cell Line | EDJ-KQ28867 | Human | 5784 | Details Get a Quote |
| PTPN14 Knockout HeLa Cell Line | EDJ-KQ28868 | Human | 5784 | Details Get a Quote |
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