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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NPTN
neuroplastin
Chromosome 15 · 15q24.1
NCBI Gene: 27020Ensembl: ENSG00000156642.18HGNC: HGNC:17867UniProt: Q9Y639
59PubMed Papers
20Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell surfacecell-cell adhesion mediator activitynegative regulation of cytokine productioncolor vision disorderdevelopmental disorder of mental healthAlzheimer diseasedeafness
✦AI Summary

Neuroplastin (NPTN) is a cell adhesion glycoprotein of the immunoglobulin superfamily that serves as a critical regulator of synaptic function and cognitive processes 1. As a primary function, NPTN mediates homophilic and heterophilic cell-cell adhesion and promotes long-term potentiation at hippocampal excitatory synapses through p38MAPK activation 2. Mechanistically, NPTN operates through multiple pathways: it acts as an obligatory chaperone for plasma membrane calcium ATPases (PMCA2), enabling their surface trafficking and facilitating rapid Ca2+ clearance at rates exceeding 5000 cycles/second—essential for terminating Ca2+ signals and maintaining cellular homeostasis 3. Additionally, NPTN regulates neurite outgrowth via FGFR1 signaling and controls synaptic plasticity through calcium signaling 1. Disease relevance is substantial: NPTN loss or pathway disruption associates with neuropsychiatric and neurodegenerative conditions including dementia, schizophrenia, and Alzheimer's disease 2. In Parkinson's disease, NPTN emerges as a potential synaptic-level biomarker 4, while in depression, the regulatory lncRNA NPTN-IT1-201 ameliorates depressive-like behaviors via the miR-142-5p/BDNF axis 5. Clinically, NPTN represents a novel cognition-related molecule with implications for treating nervous system diseases and potential as a therapeutic target, particularly for cognitive and mood disorders.

Sources cited
1
NPTN is a cell recognition glycoprotein involved in synapse formation, calcium signaling, and associated with neuropsychiatric diseases including dementia, schizophrenia, and Alzheimer's disease
PMID: 34680901
2
NPTN is an obligatory chaperone for PMCA2 calcium ATPases, enabling surface trafficking and supporting ultra-fast Ca2+ clearing with cycling rates exceeding 5000 cycles/second
PMID: 40835599
3
NPTN is essential for cognition, long-term potentiation, and associative memory formation; interacts with plasma membrane calcium ATPases to regulate calcium homeostasis
PMID: 34282131
4
NPTN is identified as a potential biomarker at the synaptic level in the human amygdaloid complex in Parkinson's disease
PMID: 37947401
5
LncRNA NPTN-IT1-201 ameliorates depressive-like behaviors by targeting miR-142-5p and regulating inflammation and apoptosis via BDNF in depression models
PMID: 39145838
6
NPTN functions as a novel cancer suppressor gene in glioma, counteracting oncogenic FAM20C by inhibiting proliferation and migration
PMID: 36708808
Disease Associationsⓘ20
color vision disorderOpen Targets
0.24Weak
developmental disorder of mental healthOpen Targets
0.12Weak
Alzheimer diseaseOpen Targets
0.11Weak
deafnessOpen Targets
0.08Suggestive
strokeOpen Targets
0.07Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.07Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.06Suggestive
appendectomyOpen Targets
0.06Suggestive
hearing loss, autosomal recessiveOpen Targets
0.06Suggestive
childhood onset GLUT1 deficiency syndrome 2Open Targets
0.04Suggestive
Paroxysmal exertion-induced dyskinesiaOpen Targets
0.04Suggestive
glaucomaOpen Targets
0.04Suggestive
Autosomal recessive spastic paraplegia type 44Open Targets
0.04Suggestive
atypical pantothenate kinase-associated neurodegenerationOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.04Suggestive
Adult-onset dystonia-parkinsonismOpen Targets
0.03Suggestive
autosomal recessive Parkinson disease 14Open Targets
0.03Suggestive
spinocerebellar ataxia type 18Open Targets
0.03Suggestive
neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalitiesOpen Targets
0.03Suggestive
neuroferritinopathyOpen Targets
0.03Suggestive
Pathogenic Variants7
NM_012428.4(NPTN):c.409C>T (p.Arg137Ter)Pathogenic
NPTN-associated neurodevelopmental disorder
★☆☆☆2026→ Residue 137
NM_012428.4(NPTN):c.1025C>T (p.Pro342Leu)Likely pathogenic
NPTN-related neurodevelopmental disorder
★☆☆☆2025→ Residue 342
NM_012428.4(NPTN):c.284C>G (p.Ser95Ter)Likely pathogenic
NPTN-related neurodevelopmental disorder
★☆☆☆2025→ Residue 95
NM_012428.4(NPTN):c.403T>A (p.Trp135Arg)Likely pathogenic
NPTN-related neurodevelopmental disorder
★☆☆☆2025→ Residue 135
NM_012428.4(NPTN):c.342C>G (p.Tyr114Ter)Pathogenic
NPTN-related neurodevelopmental disorder
★☆☆☆2025→ Residue 114
NM_012428.4(NPTN):c.902del (p.Asn301fs)Pathogenic
NPTN-related neurodevelopmental disorder
★☆☆☆2025→ Residue 301
NM_012428.4(NPTN):c.218_219del (p.Glu73fs)Pathogenic
NPTN-related neurodevelopmental disorder
★☆☆☆2025→ Residue 73
View on ClinVar ↗
Related Genes
EPORProtein interaction99%FAUProtein interaction81%ATP2B1Protein interaction77%BSGProtein interaction71%EMBShared pathway21%MYPNShared pathway21%
Tissue Expression6 tissues
Heart
100%
Brain
68%
Lung
39%
Ovary
29%
Liver
23%
Bone Marrow
23%
Gene Interaction Network
Click a node to explore
NPTNEPORFAUATP2B1BSGEMBMYPN
PROTEIN STRUCTURE
Preparing viewer…
PDB6A69 · 4.11 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.14 [0.07–0.29]
RankingsWhere NPTN stands among ~20K protein-coding genes
  • #7,794of 20,598
    Most Researched59
  • #3,213of 5,498
    Most Pathogenic Variants7
  • #1,046of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedNPTN
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Neuroplastin in Neuropsychiatric Diseases.
PMID: 34680901
Genes (Basel) · 2021
1.00
2
Learning non-local perfusion textures for high-quality computed tomography perfusion imaging.
PMID: 33910178
Phys Med Biol · 2021
0.90
3
Ca
PMID: 40835599
Nat Commun · 2025
0.80
4
Synaptic Involvement of the Human Amygdala in Parkinson's Disease.
PMID: 37947401
Mol Cell Proteomics · 2023
0.70
5
LncRNA NPTN-IT1-201 Ameliorates Depressive-like Behavior by Targeting miR-142-5p and Regulating Inflammation and Apoptosis via BDNF.
PMID: 39145838
Curr Med Sci · 2024
0.60