NETO1 Gene
Neuropilin and tolloid-like 1
Gene Information Card
| Symbol | NETO1 |
|---|---|
| Full Name | neuropilin and tolloid-like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q22.3 |
| NCBI Gene ID | 81832 ncbi.nlm.nih.gov/gene/81832 |
| Ensembl ID | ENSG00000166342 |
| UniProt ID | Q8TDF5 |
| OMIM ID | 607923 |
| HGNC ID | 24557 |
| Aliases | BTCL1, FLJ10718, NETO1alpha, NETO1beta |
Description
NETO1 encodes a transmembrane protein that interacts with kainate-type glutamate receptors and NMDA receptors, modulating synaptic transmission and plasticity. It is involved in neuronal development and has been implicated in neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 48 | Loss-of-function variants impair receptor modulation | ClinVar, OMIM |
| Intellectual disability, autosomal dominant 64 | Missense mutations disrupt protein function | ClinVar, OMIM |
| Schizophrenia | Altered NETO1 expression affects glutamatergic signaling | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Testis | 3.4 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.7 | Neuronal cell line |
| U-87 MG | 2.1 | Glioblastoma |
| HEK293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Impaired receptor binding |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated or absent protein, reducing synaptic receptor modulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may interfere with wild-type NETO1 function in heteromeric complexes.
View complete mutation data：
Gene Ontology (GO)
| • synaptic transmission | • glutamatergic |
| • regulation of postsynaptic membrane potential | • kainate selective glutamate receptor complex |
| • plasma membrane | • protein homodimerization activity |
Pathways
• Glutamatergic synapse
• Neuroactive ligand-receptor interaction
Protein Summary
NETO1 is a 526-amino acid transmembrane protein with two extracellular CUB domains and a LDLa domain. It associates with kainate receptors (GRIK1-5) and NMDA receptors (GRIN1/GRIN2) to modulate channel kinetics and synaptic plasticity. Expressed predominantly in the brain, it is critical for learning and memory.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NETO1 Knockout HEK293 Cell Line | EDJ-KQ9756 | Human | 81832 | Details Get a Quote |
| NETO1 Knockout HeLa Cell Line | EDJ-KQ57416 | Human | 81832 | Details Get a Quote |
| NETO1 Knockout A-549 Cell Line | EDJ-KQ65922 | Human | 81832 | Details Get a Quote |
| NETO1 Knockout HCT 116 Cell Line | EDJ-KQ74349 | Human | 81832 | Details Get a Quote |
