NSG2 (Neuronal Vesicle Trafficking Associated 2)
A neuronal-specific endosomal protein involved in synaptic vesicle recycling and neurodevelopment.
Gene Information Card
| Symbol | NSG2 |
|---|---|
| Full Name | Neuronal Vesicle Trafficking Associated 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 51617 ncbi.nlm.nih.gov/gene/51617 |
| Ensembl ID | ENSG00000170027 |
| UniProt ID | Q9Y6Y0 |
| OMIM ID | 608014 |
| HGNC ID | 18000 |
| Aliases | HMP19, NSG2, Nsg2 |
Description
NSG2 encodes a neuron-specific endosomal protein that localizes to synaptic vesicles and early endosomes. It is involved in the trafficking of internalized membrane proteins and may regulate synaptic vesicle recycling and neuronal differentiation. The protein contains a conserved N-terminal domain and a C-terminal region that interacts with clathrin adaptor complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with language delay and behavioral abnormalities | Disruption of NSG2 expression may impair synaptic vesicle trafficking, affecting neuronal connectivity and signaling. | ClinVar: pathogenic variants reported in individuals with developmental delay. |
| Intellectual disability | Loss-of-function variants in NSG2 are associated with non-syndromic intellectual disability. | OMIM: 608014; case reports in literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Testis | 1.2 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model; high expression |
| U-87 MG (glioblastoma) | 6.1 | Moderate expression |
| HEK293 (embryonic kidney) | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; predicted to cause nonsense-mediated decay. |
| c.454_455del (p.Leu152Valfs*3) | Frameshift | Rare | Loss of function; truncated protein. |
| c.200A>G (p.Asn67Ser) | Missense | Unknown | Likely benign; no functional impact reported. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg113*, p.Leu152Valfs*3) lead to truncated protein or mRNA decay, reducing functional NSG2 levels.
Gain of Function (GOF)
No gain-of-function mutations reported for NSG2.
Dominant Negative (DN)
No dominant-negative mutations reported for NSG2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
Protein Summary
NSG2 is a 185-amino acid protein with a single transmembrane domain. It is predominantly expressed in neurons and localizes to synaptic vesicles and early endosomes. The protein interacts with AP-2 and AP-1 clathrin adaptor complexes, facilitating the sorting of membrane proteins. NSG2 may play a role in neuronal differentiation and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NSG2 Knockout HEK293 Cell Line | EDJ-KQ11160 | Human | 51617 | Details Get a Quote |
| NSG2 Knockout HeLa Cell Line | EDJ-KQ56334 | Human | 51617 | Details Get a Quote |
| NSG2 Knockout A-549 Cell Line | EDJ-KQ64822 | Human | 51617 | Details Get a Quote |
| NSG2 Knockout HCT 116 Cell Line | EDJ-KQ73267 | Human | 51617 | Details Get a Quote |
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