PTN (Pleiotrophin) - A Growth Factor with Roles in Cancer and Neurodevelopment
Comprehensive gene card for PTN, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | PTN |
|---|---|
| Full Name | Pleiotrophin |
| Gene Type | Protein coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 5764 ncbi.nlm.nih.gov/gene/5764 |
| Ensembl ID | ENSG00000105894 |
| UniProt ID | P21246 |
| OMIM ID | 162095 |
| HGNC ID | 9630 |
| Aliases | HB-GAM, HBNF, HARP, HBGF-8, NEGF1 |
Description
PTN (Pleiotrophin) encodes a secreted heparin-binding growth factor that plays a crucial role in various physiological and pathological processes, including neurodevelopment, angiogenesis, and tumorigenesis. It is a 136-amino acid protein that binds to cell surface receptors, such as receptor protein tyrosine phosphatase beta/zeta (PTPRZ1) and syndecans, to activate downstream signaling pathways like PI3K/AKT and MAPK. PTN is highly expressed during embryonic development, particularly in the nervous system, but its expression is low in most adult tissues. However, it is frequently overexpressed in various human cancers, where it promotes tumor growth, invasion, and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types, including glioblastoma, breast, lung, pancreatic) | Overexpression of PTN promotes tumor growth, angiogenesis, and metastasis through activation of signaling pathways like PI3K/AKT and MAPK, and by inhibiting apoptosis. | High expression levels are correlated with poor prognosis in multiple cancer types. Functional studies show that knockdown of PTN reduces tumorigenicity in xenograft models. |
| Neurodevelopmental disorders (e.g., schizophrenia, bipolar disorder) | PTN is involved in neuronal development and synaptic plasticity. Genetic variations and altered expression levels have been associated with an increased risk for these disorders. | Association studies have linked PTN polymorphisms to schizophrenia. Post-mortem brain studies show altered PTN expression in patients with psychiatric disorders. |
| Alzheimer's disease | PTN can bind to amyloid-beta (Aβ) peptides and modulate their aggregation and toxicity. It may also play a role in neuroinflammation. | In vitro studies show PTN inhibits Aβ fibril formation. Animal models suggest a neuroprotective role for PTN in Alzheimer's disease. |
| Ischemic stroke | PTN expression is upregulated in the brain after ischemic injury, where it may promote neuronal survival and angiogenesis. | Animal models of stroke show that PTN administration reduces infarct size and improves functional recovery. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Low |
| Heart | 0.0 | Low |
| Lung | 0.0 | Low |
| Liver | 0.0 | Low |
| Kidney | 0.0 | Low |
| Testis | 0.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-87 MG (Glioblastoma) | 0.0 | PTN is known to be overexpressed in glioblastoma cell lines, but the nTPM value in the Human Protein Atlas is low. |
| MCF7 (Breast cancer) | 0.0 | PTN expression is variable in breast cancer cell lines; some show high expression, but the consensus dataset shows low levels. |
| A549 (Lung cancer) | 0.0 | PTN expression is low in this cell line according to the consensus dataset. |
| HepG2 (Liver cancer) | 0.0 | PTN expression is low in this cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.32C>T (p.Thr11Met) | Missense | Rare (<0.01%) | Unknown; not reported in ClinVar with a clinical significance. |
| c.154G>A (p.Val52Ile) | Missense | Rare (<0.01%) | Unknown; not reported in ClinVar with a clinical significance. |
| c.268A>G (p.Thr90Ala) | Missense | Rare (<0.01%) | Unknown; not reported in ClinVar with a clinical significance. |
| c.337G>A (p.Val113Met) | Missense | Rare (<0.01%) | Unknown; not reported in ClinVar with a clinical significance. |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations have been reported for PTN. Given its role as a growth factor, loss of function might be expected to impair development or cellular proliferation, but no such pathogenic variants are currently cataloged in ClinVar.
Gain of Function (GOF)
Gain-of-function is primarily achieved through overexpression or amplification of the PTN gene, rather than specific point mutations. Overexpression is a common feature in many cancers and is associated with increased tumorigenicity.
Dominant Negative (DN)
No dominant-negative mutations have been described for PTN. As a secreted ligand, a dominant-negative effect would require a mutant protein that could bind to receptors but fail to activate them, which has not been reported.
View complete mutation data：
Gene Ontology (GO)
| • growth factor activity | • heparin binding |
| • cytokine activity | • extracellular space |
| • regulation of cell population proliferation | • angiogenesis |
| • nervous system development | • cell differentiation |
| • positive regulation of cell migration | • signal transduction |
Pathways
• PI3K-Akt signaling pathway
• MAPK signaling pathway
• Ras signaling pathway
• Pathways in cancer
Protein Summary
Pleiotrophin (PTN) is a secreted, heparin-binding growth factor of 136 amino acids. It is a developmentally regulated protein, highly expressed in the embryonic nervous system but downregulated in most adult tissues. PTN exerts its effects by binding to cell surface receptors, notably receptor protein tyrosine phosphatase beta/zeta (PTPRZ1) and syndecans. This binding triggers intracellular signaling cascades, including the PI3K/AKT and MAPK pathways, which promote cell survival, proliferation, and migration. PTN is a potent angiogenic factor and is frequently overexpressed in various human cancers, where it contributes to tumor progression and metastasis. Its role in neurodevelopment and synaptic plasticity also links it to neurological and psychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTN Knockout HEK293 Cell Line | EDJ-KQ5591 | Human | 5764 | Details Get a Quote |
| PTN Knockout HeLa Cell Line | EDJ-KQ54268 | Human | 5764 | Details Get a Quote |
| PTN Knockout A-549 Cell Line | EDJ-KQ62760 | Human | 5764 | Details Get a Quote |
| PTN Knockout HCT 116 Cell Line | EDJ-KQ71229 | Human | 5764 | Details Get a Quote |
