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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NPTXR
neuronal pentraxin receptor
Chromosome 22 · 22q13.1
NCBI Gene: 23467Ensembl: ENSG00000221890.7HGNC: HGNC:7954UniProt: O95502
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glutamatergic synapsemembraneinsomniacholelithiasisgastric cancerneoplasm
✦AI Summary

NPTXR (neuronal pentraxin receptor) is a transmembrane protein primarily involved in synaptic plasticity and neuronal circuit maturation. In the brain, NPTXR coordinates AMPA receptor clustering at excitatory synapses, particularly in parvalbumin-expressing interneurons, where it works with NPTX2 to promote GluA4-containing AMPAR expression and maintain proper circuit inhibition/excitation balance 1. NPTXR knockout mice display delayed circuit maturation, reduced feedforward inhibition, and increased seizure susceptibility, highlighting its role in network stability 1. Beyond neurobiology, NPTXR has emerged as a disease-associated protein. Cerebrospinal fluid NPTXR levels are reduced in Alzheimer's disease patients and decline progressively, correlating with disease progression independent of amyloid and tau pathology 2. NPTXR also represents a novel genetic risk factor for intracranial aneurysms 3 and ocular diseases including glaucoma 4. Notably, NPTXR is aberrantly expressed in gastric and esophageal cancers, where it promotes metastatic behavior through PI3K-AKT-mTOR and FAK-JNK signaling; anti-NPTXR monoclonal antibodies effectively inhibit cancer cell proliferation and metastasis 56. In SOD1-linked amyotrophic lateral sclerosis, NPTXR levels in cerebrospinal fluid respond to tofersen treatment and correlate with clinical response 7, suggesting potential as a biomarker for neurological disease progression.

Sources cited
1
NPTXR coordinates GluA4-containing AMPAR clustering in parvalbumin interneurons and is essential for circuit maturation and network stability
PMID: 25754824
2
CSF NPTXR levels are lower in Alzheimer's disease and decline progressively as a candidate biomarker of AD progression
PMID: 32362369
3
NPTXR is associated with increased risk of intracranial aneurysms based on Mendelian randomization analysis
PMID: 39051921
4
NPTXR is identified as a plasma protein causally associated with glaucoma
PMID: 39408566
5
NPTXR promotes metastatic behavior in gastric cancer through multiple signaling pathways and is targetable by monoclonal antibodies
PMID: 32847597
6
NPTXR is overexpressed in esophageal squamous cell carcinoma, promotes malignant behavior, and anti-NPTXR antibodies inhibit cell proliferation
PMID: 38717547
7
CSF NPTXR levels respond to tofersen treatment in SOD1-ALS and correlate with clinical response
PMID: 40781905
Disease Associationsⓘ20
insomniaOpen Targets
0.37Weak
cholelithiasisOpen Targets
0.13Weak
gastric cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
cardiovascular diseaseOpen Targets
0.03Suggestive
atrial fibrillationOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.02Suggestive
benign prostatic hyperplasiaOpen Targets
0.02Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.02Suggestive
depressive disorderOpen Targets
0.02Suggestive
prion diseaseOpen Targets
0.01Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CBX6Protein interaction90%NPR1Protein interaction85%NPTX2Protein interaction84%RCN2Protein interaction84%NPPAProtein interaction82%NPR3Protein interaction82%
Tissue Expression6 tissues
Brain
100%
Heart
47%
Ovary
15%
Lung
3%
Bone Marrow
1%
Liver
1%
Gene Interaction Network
Click a node to explore
NPTXRCBX6NPR1NPTX2RCN2NPPANPR3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O95502
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.52 [0.34–0.81]
RankingsWhere NPTXR stands among ~20K protein-coding genes
  • #13,967of 20,598
    Most Researched21
  • #6,884of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedNPTXR
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of immune-inflammation targets for intracranial aneurysms: a multiomics and epigenome-wide study integrating summary-data-based Mendelian randomization, single-cell-type expression analysis, and DNA methylation regulation.
PMID: 39051921
Int J Surg · 2025
1.00
2
Therapeutic monoclonal antibody targeting of neuronal pentraxin receptor to control metastasis in gastric cancer.
PMID: 32847597
Mol Cancer · 2020
0.90
3
Cerebrospinal fluid neuronal pentraxin receptor as a biomarker of long-term progression of Alzheimer's disease: a 24-month follow-up study.
PMID: 32362369
Neurobiol Aging · 2020
0.80
4
Therapeutic Potential of Antibody Targeting Neuronal Pentraxin Receptor in Esophageal Squamous Cell Carcinoma.
PMID: 38717547
Ann Surg Oncol · 2024
0.70
5
Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1-Linked Amyotrophic Lateral Sclerosis.
PMID: 40781905
Ann Neurol · 2025
0.60