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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NPTX2
neuronal pentraxin 2
Chromosome 7 · 7q22.1
NCBI Gene: 4885Ensembl: ENSG00000106236.5HGNC: HGNC:7953UniProt: P47972
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingglutamatergic synapsechemical synaptic transmissionpresynapseneurodegenerative diseasepsoriatic arthritisinjuryAlzheimer disease
✦AI Summary

NPTX2 is a synaptic immediate early gene essential for long-term synaptic plasticity and excitatory-inhibitory balance 1. NPTX2 regulates AMPA receptor subunit GluA4 expression on parvalbumin interneurons, critical for controlling network excitability and rhythmicity 1. The protein also functions as a secreted neuronal pentraxin that binds complement C1q, restraining microglial-mediated synapse loss 2. NPTX2 is part of an activity-regulated plasticity cluster coordinating synaptic function and mitochondrial integrity 3. In disease, NPTX2 misregulation is central to TDP-43 proteinopathies in amyotrophic lateral sclerosis and frontotemporal lobar degeneration, where TDP-43 normally regulates NPTX2 via its 3' UTR 4. NPTX2 accumulation from TDP-43 loss of function drives neurodegeneration, while NPTX2 reduction worsens complement-mediated pathology 2. Cerebrospinal fluid NPTX2 levels are robust biomarkers predicting cognitive decline in Alzheimer's disease, with SNAP-25/NPTX2 and 14-3-3ζ/δ/NPTX2 ratios predicting progression better than either protein alone 56. NPTX2 loss of function also disrupts sleep-wake regulation and circadian rhythmicity 7. These findings position NPTX2 as a hub linking synaptic dysfunction to cognitive decline across multiple neurodegenerative diseases.

Sources cited
1
NPTX2 is a synaptic immediate early gene essential for long-term synaptic plasticity and excitatory-inhibitory balance .
PMID: 28440221
2
The protein also functions as a secreted neuronal pentraxin that binds complement C1q, restraining microglial-mediated synapse loss .
PMID: 36989373
3
NPTX2 is part of an activity-regulated plasticity cluster coordinating synaptic function and mitochondrial integrity .
PMID: 41279079
4
In disease, NPTX2 misregulation is central to TDP-43 proteinopathies in amyotrophic lateral sclerosis and frontotemporal lobar degeneration, where TDP-43 normally regulates NPTX2 via its 3' UTR .
PMID: 38355792
5
NPTX2 loss of function also disrupts sleep-wake regulation and circadian rhythmicity .
PMID: 37808783
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.23Weak
psoriatic arthritisOpen Targets
0.19Weak
injuryOpen Targets
0.18Weak
Alzheimer diseaseOpen Targets
0.11Weak
myopathyOpen Targets
0.11Weak
Parkinson diseaseOpen Targets
0.09Suggestive
Dravet syndromeOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
AnxietyOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
frontotemporal dementiaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
7q11.23 microduplication syndromeOpen Targets
0.07Suggestive
gastric ulcerOpen Targets
0.07Suggestive
hemorrhageOpen Targets
0.07Suggestive
Monoamine oxidase A deficiencyOpen Targets
0.07Suggestive
schizophrenia 19Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACP1Shared pathway100%SYPL1Shared pathway100%NPTXRProtein interaction84%AVPProtein interaction83%GRIA4Protein interaction80%NLGN1Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Ovary
8%
Heart
6%
Bone Marrow
5%
Liver
2%
Lung
1%
Gene Interaction Network
Click a node to explore
NPTX2ACP1SYPL1NPTXRAVPGRIA4NLGN1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P47972
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.55–1.09]
RankingsWhere NPTX2 stands among ~20K protein-coding genes
  • #8,850of 20,598
    Most Researched50
  • #11,128of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedNPTX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A model of human neural networks reveals NPTX2 pathology in ALS and FTLD.
PMID: 38355792
Nature · 2024
1.00
2
The neuronal pentraxin Nptx2 regulates complement activity and restrains microglia-mediated synapse loss in neurodegeneration.
PMID: 36989373
Sci Transl Med · 2023
0.90
3
A cerebrospinal fluid synaptic protein biomarker for prediction of cognitive resilience versus decline in Alzheimer's disease.
PMID: 40164724
Nat Med · 2025
0.80
4
Cerebrospinal fluid biomarker panel for synaptic dysfunction in a broad spectrum of neurodegenerative diseases.
PMID: 38325331
Brain · 2024
0.70
5
NPTX2 and cognitive dysfunction in Alzheimer's Disease.
PMID: 28440221
Elife · 2017
0.60