NPTXR (Neuronal Pentraxin Receptor)
A synaptic protein implicated in neuropsychiatric disorders and cancer
Gene Information Card
| Symbol | NPTXR |
|---|---|
| Full Name | Neuronal Pentraxin Receptor |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 23467 ncbi.nlm.nih.gov/gene/23467 |
| Ensembl ID | ENSG00000100234 |
| UniProt ID | O95502 |
| OMIM ID | 609587 |
| HGNC ID | 7952 |
| Aliases | NPR, NPTX1R, FLJ14490 |
Description
NPTXR encodes the neuronal pentraxin receptor, a type I transmembrane protein that localizes to excitatory synapses. It binds neuronal pentraxins (NPTX1, NPTX2) and mediates synaptic clustering of AMPA-type glutamate receptors, playing a critical role in synaptic plasticity, long-term potentiation, and learning. The gene is predominantly expressed in the brain and has been associated with schizophrenia, bipolar disorder, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered NPTXR expression may disrupt glutamatergic signaling and synaptic plasticity, contributing to disease pathophysiology. | NCBI Gene, OMIM |
| Bipolar disorder | Genetic variants and reduced NPTXR expression have been reported in postmortem brain studies. | NCBI Gene, OMIM |
| Colorectal cancer | NPTXR is hypermethylated and downregulated in colorectal tumors, suggesting a tumor suppressor role. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 28.5 | High |
| Hippocampus | 25.3 | High |
| Cerebellum | 18.7 | Medium |
| Testis | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 8.4 | Glial origin |
| HEK293 (embryonic kidney) | 0.3 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | <0.01% | Unknown functional effect; rare variant in population databases |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Predicted damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • synaptic transmission | • glutamatergic |
| • AMPA glutamate receptor clustering | • positive regulation of long-term synaptic potentiation |
| • cell surface receptor signaling pathway | • protein homooligomerization |
Pathways
• Neuronal pentraxin pathway (Reactome: R-HSA-6794362)
• Glutamatergic synapse (KEGG: hsa04724)
Protein Summary
The neuronal pentraxin receptor (NPTXR) is a 477-amino acid transmembrane protein with an N-terminal signal peptide, a pentraxin domain, and a C-terminal transmembrane region. It forms heteromeric complexes with NPTX1 and NPTX2, anchoring them to the postsynaptic membrane. This complex facilitates the clustering of AMPA receptors at synapses, essential for synaptic transmission and plasticity. NPTXR is highly expressed in the brain, particularly in the cortex and hippocampus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPTXR Knockout HEK293 Cell Line | EDJ-KQ51107 | Human | 23467 | Details Get a Quote |
| NPTXR Knockout HeLa Cell Line | EDJ-KQ55745 | Human | 23467 | Details Get a Quote |
| NPTXR Knockout A-549 Cell Line | EDJ-KQ64243 | Human | 23467 | Details Get a Quote |
| NPTXR Knockout HCT 116 Cell Line | EDJ-KQ72689 | Human | 23467 | Details Get a Quote |
