NXPH3 (Neurexophilin 3)
A member of the neurexophilin family involved in synaptic function and neurodevelopment.
Gene Information Card
| Symbol | NXPH3 |
|---|---|
| Full Name | Neurexophilin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 11248 ncbi.nlm.nih.gov/gene/11248 |
| Ensembl ID | ENSG00000182534 |
| UniProt ID | O95156 |
| OMIM ID | 604638 |
| HGNC ID | 8080 |
| Aliases | NPH3, neurexophilin-3 |
Description
NXPH3 encodes neurexophilin 3, a secreted glycoprotein that binds to neurexins and modulates synaptic transmission. It is primarily expressed in the brain and plays a role in neurodevelopment and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered NXPH3 expression may disrupt neurexin signaling, contributing to synaptic dysfunction. | NCBI Gene, OMIM |
| Autism spectrum disorder | Variants in NXPH3 may affect synaptic adhesion and neuronal connectivity. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 1.5 | Low |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 5.3 | Neuroblastoma cell line |
| U-87 MG | 2.1 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | <0.01% | Unknown functional impact |
| c.415C>T (p.Pro139Ser) | Missense | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Not reported
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • synaptic signaling | • neuropeptide signaling pathway |
| • extracellular region | • protein binding |
Pathways
• Neurexin-neuroligin signaling
• Synaptic vesicle cycle
Protein Summary
Neurexophilin 3 is a 271-amino acid secreted protein that contains an N-terminal signal peptide, a central domain, and a C-terminal neurexin-binding region. It is involved in modulating synaptic transmission by interacting with neurexins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NXPH3 Knockout HEK293 Cell Line | EDJ-KQ7348 | Human | 11248 | Details Get a Quote |
| NXPH3 Knockout HeLa Cell Line | EDJ-KQ55610 | Human | 11248 | Details Get a Quote |
| NXPH3 Knockout A-549 Cell Line | EDJ-KQ64108 | Human | 11248 | Details Get a Quote |
| NXPH3 Knockout HCT 116 Cell Line | EDJ-KQ72553 | Human | 11248 | Details Get a Quote |
