HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NXPH1
neurexophilin 1
Chromosome 7 · 7p21.3
NCBI Gene: 30010Ensembl: ENSG00000122584.13HGNC: HGNC:20693UniProt: P58417
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor bindingmodulation of chemical synaptic transmissionsynaptic cleftglutamatergic synapseschizophreniaesophageal diseaseBack painintracranial hemorrhage
✦AI Summary

NXPH1 (neurexophilin 1) is a signaling molecule that binds to alpha-neurexins (particularly α-NRXN1) and functions as a ligand in cell-cell communication 1. In the nervous system, NXPH1 acts as a potent inhibitor of hematopoietic progenitor cell proliferation through NRXN1α signaling, which can be modulated by dystroglycan 1. In neuroblastoma, NXPH1/α-NRXN signaling exhibits dual functionality: it promotes tumor growth via increased cell proliferation but conversely inhibits organotropic metastasis by restraining the mesenchymal transition of cancer cells 2. NXPH1 is dysregulated in multiple disease contexts. Genetic variants in NXPH1 associate with diarrhea-predominant irritable bowel syndrome (IBS-D) 3 and modulate plasma triglyceride responses to omega-3 fatty acid supplementation through altered gene expression and DNA methylation 45. In pancreatic cancer, NXPH1 expression is significantly elevated compared to normal tissue and may serve as a diagnostic biomarker 6. In neuroinflammatory conditions, NXPH1 is upregulated in trigeminal neuralgia patients, with expression normalizing after successful microvascular decompression surgery 7. Additionally, NXPH1 expression is regulated by miR-194-5p, which modulates astrocyte activation and neuroinflammation 8.

Sources cited
1
NXPH1 binds to NRXN1α and inhibits hematopoietic progenitor cell proliferation
PMID: 21628410
2
NXPH1/α-NRXN signaling promotes neuroblastoma growth but inhibits metastasis and mesenchymal transition
PMID: 37301928
3
NXPH1 genetic variants associate with IBS-D susceptibility
PMID: 24041540
4
NXPH1 gene expression and methylation influence plasma triglyceride response to omega-3 supplementation
PMID: 28134766
5
NXPH1 SNPs show genotype effects and gene-diet interactions on triglyceride response
PMID: 27160456
6
NXPH1 expression is elevated in pancreatic cancer and may serve as a diagnostic biomarker
PMID: 27817196
7
NXPH1 is upregulated in trigeminal neuralgia patients and normalizes after surgery
PMID: 38158702
8
miR-194-5p directly targets NXPH1 to inhibit astrocyte activation and neuroinflammation
PMID: 32533463
Disease Associationsⓘ20
schizophreniaOpen Targets
0.38Weak
esophageal diseaseOpen Targets
0.38Weak
Back painOpen Targets
0.36Weak
intracranial hemorrhageOpen Targets
0.31Weak
skin diseaseOpen Targets
0.30Weak
Neck painOpen Targets
0.30Weak
ocular hypotensionOpen Targets
0.30Weak
preeclampsiaOpen Targets
0.30Weak
Abdominal painOpen Targets
0.29Weak
gastroesophageal reflux diseaseOpen Targets
0.29Weak
gram-negative bacterial infectionsOpen Targets
0.29Weak
lymphadenitisOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.29Weak
psoriasisOpen Targets
0.29Weak
Calcium phosphate nephrolithiasisOpen Targets
0.29Weak
central nervous system infectionOpen Targets
0.28Weak
smoking initiationOpen Targets
0.28Weak
liver diseaseOpen Targets
0.26Weak
CachexiaOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.24Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AKAP7Shared pathway100%NRXN1Protein interaction83%NRXN2Protein interaction83%CAMKVShared pathway50%NXPH4Shared pathway50%LRFN2Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
1%
Liver
0%
Lung
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
NXPH1AKAP7NRXN1NRXN2CAMKVNXPH4LRFN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P58417
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.20 [0.10–0.43]
RankingsWhere NXPH1 stands among ~20K protein-coding genes
  • #11,563of 20,598
    Most Researched32
  • #2,278of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedNXPH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Plasma Triglyceride Levels May Be Modulated by Gene Expression of IQCJ, NXPH1, PHF17 and MYB in Humans.
PMID: 28134766
Int J Mol Sci · 2017
1.00
2
Neural crest-related NXPH1/α-NRXN signaling opposes neuroblastoma malignancy by inhibiting organotropic metastasis.
PMID: 37301928
Oncogene · 2023
0.90
3
Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome.
PMID: 24041540
Gut · 2014
0.80
4
The detection of tumor location and lymph node metastasis by aberrant NXPH1 and NXPH2 expressions in pancreatic ductal adenocarcinomas.
PMID: 27817196
Chin J Physiol · 2016
0.70
5
miR-194-5p inhibits LPS-induced astrocytes activation by directly targeting neurexophilin 1.
PMID: 32533463
Mol Cell Biochem · 2020
0.60