PTPN13
Protein Tyrosine Phosphatase Non-Receptor Type 13
Gene Information Card
| Symbol | PTPN13 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Non-Receptor Type 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.3 |
| NCBI Gene ID | 5783 ncbi.nlm.nih.gov/gene/5783 |
| Ensembl ID | ENSG00000163629 |
| UniProt ID | Q12923 |
| OMIM ID | 600267 |
| HGNC ID | 9646 |
| Aliases | PTP-BAS, PTPL1, FAP-1, PTP1E, PTPN13L |
Description
PTPN13 encodes a non-receptor protein tyrosine phosphatase that regulates cell adhesion, apoptosis, and cytoskeletal dynamics. It interacts with FAS receptor to inhibit FAS-induced apoptosis and modulates integrin signaling. The gene is implicated in tumor suppression and is frequently altered in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of PTPN13 expression correlates with poor prognosis; may promote tumor progression via FAS signaling dysregulation | PMID: 15626734; COSMIC |
| Colorectal cancer | Somatic mutations and reduced expression linked to metastasis and resistance to apoptosis | PMID: 17934462; ClinVar |
| Hepatocellular carcinoma | Downregulation associated with increased cell proliferation and migration | PMID: 21947069 |
| Prostate cancer | Hypermethylation of PTPN13 promoter leads to silencing and disease progression | PMID: 20077526 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 3.8 | Low |
| Breast | 8.1 | Medium |
| Colon | 12.4 | Medium |
| Kidney | 6.5 | Low |
| Liver | 4.9 | Low |
| Lung | 7.3 | Medium |
| Ovary | 9.8 | Medium |
| Prostate | 11.2 | Medium |
| Skin | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 8.5 | Moderate expression |
| HCT116 (colorectal cancer) | 14.2 | High expression |
| HepG2 (liver cancer) | 6.1 | Low expression |
| A549 (lung cancer) | 9.3 | Moderate expression |
| PC3 (prostate cancer) | 7.8 | Moderate 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% in general population | Loss of function; truncation of phosphatase domain |
| c.2567A>G (p.Asn856Ser) | Missense | 0.2% in COSMIC | Reduced phosphatase activity |
| c.3456_3457insA | Frameshift | <0.1% | Predicted loss of function |
| c.4789G>A (p.Gly1597Arg) | Missense | 0.1% | Altered substrate binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, c.3456_3457insA) lead to truncated or unstable protein, reducing phosphatase activity and tumor suppressor function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in PTPN13.
Dominant Negative (DN)
Missense mutations in the phosphatase domain (e.g., p.Asn856Ser) may interfere with wild-type protein function, though dominant-negative effects are not firmly established.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004725 - protein tyrosine phosphatase activity | • GO:0005515 - protein binding |
| • GO:0005737 - cytoplasm | • GO:0005856 - cytoskeleton |
| • GO:0006915 - apoptotic process | • GO:0007165 - signal transduction |
| • GO:0016311 - dephosphorylation | • GO:0030054 - cell junction |
| • GO:0030154 - cell differentiation | • GO:0043066 - negative regulation of apoptotic process |
Pathways
• FAS signaling pathway (Reactome: R-HSA-3371378)
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Apoptosis (KEGG: hsa04210)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
PTPN13 encodes a 2485-amino acid protein (UniProt Q12923) containing a KIND domain, a FERM domain, five PDZ domains, and a C-terminal protein tyrosine phosphatase domain. It localizes to the cytoplasm and cell junctions, where it dephosphorylates substrates such as FAS and integrins. The protein acts as a scaffold in signaling complexes and negatively regulates apoptosis. Alternative splicing generates multiple isoforms with distinct functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPN13 Knockout HEK293 Cell Line | EDJ-KQ2952 | Human | 5783 | Details Get a Quote |
| PTPN13 Knockout A-549 Cell Line | EDJ-KQ24087 | Human | 5783 | Details Get a Quote |
| PTPN13 Knockout HCT 116 Cell Line | EDJ-KQ24088 | Human | 5783 | Details Get a Quote |
| PTPN13 Knockout HeLa Cell Line | EDJ-KQ24089 | Human | 5783 | Details Get a Quote |
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