NPTX2
Neuronal Pentraxin 2: A Synaptic Protein Implicated in Synaptic Plasticity and Neurological Disorders
Gene Information Card
| Symbol | NPTX2 |
|---|---|
| Full Name | neuronal pentraxin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 4885 ncbi.nlm.nih.gov/gene/4885 |
| Ensembl ID | ENSG00000106236 |
| UniProt ID | P47972 |
| OMIM ID | 600750 |
| HGNC ID | 7953 |
| Aliases | NP2, NARP, NP-II |
Description
NPTX2 (neuronal pentraxin 2) encodes a secreted protein that belongs to the neuronal pentraxin family. It is involved in synaptic plasticity, clustering of AMPA-type glutamate receptors at synapses, and the remodeling of neuronal circuits. NPTX2 is predominantly expressed in the brain, particularly in the hippocampus and cortex, and its dysregulation has been linked to schizophrenia, Alzheimer disease, epilepsy, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered NPTX2 expression may disrupt synaptic AMPA receptor clustering, affecting glutamatergic signaling and cognitive function. | NCBI Gene, OMIM |
| Alzheimer disease | Reduced NPTX2 levels in cerebrospinal fluid correlate with synaptic loss and cognitive decline; potential biomarker. | ClinVar, PubMed |
| Epilepsy | NPTX2 overexpression in temporal lobe epilepsy may contribute to aberrant synaptic reorganization and seizure susceptibility. | NCBI Gene, PubMed |
| Pancreatic cancer | NPTX2 promoter hypermethylation leads to gene silencing; used as a diagnostic and prognostic biomarker. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 23.5 | High |
| Hippocampus | 28.1 | High |
| Cerebellum | 12.3 | Medium |
| Testis | 4.2 | Low |
| Pancreas | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.8 | Neuronal model; high expression |
| U-87 MG (glioblastoma) | 8.2 | Moderate expression |
| HeLa (cervical carcinoma) | 0.5 | Very low expression |
| PANC-1 (pancreatic carcinoma) | 0.3 | Low expression; silenced by methylation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331C>T (p.Arg111Trp) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Unknown; reported in schizophrenia cohorts |
| Promoter hypermethylation | Epigenetic | Variable in pancreatic cancer | Loss of expression; biomarker |
Mutation functional classification
Loss of Function (LOF)
Promoter hypermethylation in pancreatic cancer leads to transcriptional silencing and loss of NPTX2 protein function.
Gain of Function (GOF)
Not well characterized; overexpression in epilepsy may represent a gain-of-function effect on synaptic clustering.
Dominant Negative (DN)
No dominant-negative mutations have been reported for NPTX2.
View complete mutation data：
Gene Ontology (GO)
| • synaptic transmission | • glutamatergic |
| • AMPA glutamate receptor clustering | • positive regulation of synapse assembly |
| • extracellular region | • protein homooligomerization |
| • calcium ion binding |
Pathways
• Neuronal pentraxin-mediated AMPA receptor clustering
• Synaptic plasticity pathway
• Glutamatergic synapse
Protein Summary
NPTX2 is a secreted neuronal pentraxin that forms pentameric complexes and binds to AMPA receptors, promoting their clustering at excitatory synapses. It is critical for synaptic plasticity, long-term potentiation, and learning. The protein is also implicated in the clearance of synaptic debris and in immune modulation within the central nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPTX2 Knockout HEK293 Cell Line | EDJ-KQ50487 | Human | 4885 | Details Get a Quote |
| NPTX2 Knockout HeLa Cell Line | EDJ-KQ54018 | Human | 4885 | Details Get a Quote |
| NPTX2 Knockout A-549 Cell Line | EDJ-KQ62508 | Human | 4885 | Details Get a Quote |
| NPTX2 Knockout HCT 116 Cell Line | EDJ-KQ70979 | Human | 4885 | Details Get a Quote |
