RTN2 Gene - Reticulon 2
Gene encoding a reticulon family protein involved in endoplasmic reticulum morphology and vesicle trafficking
Gene Information Card
| Symbol | RTN2 |
|---|---|
| Full Name | Reticulon 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 6253 ncbi.nlm.nih.gov/gene/6253 |
| Ensembl ID | ENSG00000125730 |
| UniProt ID | Q00535 |
| OMIM ID | 603183 |
| HGNC ID | 10469 |
| Aliases | NSP2, NSPL2, SPG12 |
Description
RTN2 encodes reticulon 2, a member of the reticulon family of proteins predominantly localized to the endoplasmic reticulum (ER). Reticulon 2 is involved in shaping the ER tubular network, vesicle trafficking, and potentially in neuronal development. Mutations in RTN2 are associated with hereditary spastic paraplegia type 12 (SPG12), a neurodegenerative disorder characterized by progressive spasticity and weakness of the lower limbs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 12 (SPG12) | Loss-of-function mutations in RTN2 disrupt ER morphology and axonal transport, leading to corticospinal tract degeneration. | OMIM #604805; ClinVar; PMID: 22232211 |
| Spastic Paraplegia | RTN2 mutations impair reticulon 2 function, affecting ER network formation and neuronal survival. | OMIM; PMID: 22232211 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.3 | Medium |
| Spinal Cord | 10.8 | Medium |
| Heart | 8.2 | Low |
| Skeletal Muscle | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 14.2 | Neuronal cell line; high expression |
| HeLa | 9.5 | Cervical carcinoma; moderate expression |
| HEK 293 | 11.0 | Embryonic kidney; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.148C>T (p.Arg50*) | Nonsense | Rare | Loss of function; truncation of reticulon 2 |
| c.2T>C (p.Met1?) | Start loss | Rare | Loss of function; no protein translation |
| c.497_498del (p.Val166Alafs*12) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Most RTN2 mutations in SPG12 are loss-of-function, leading to haploinsufficiency or complete loss of reticulon 2 protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • endoplasmic reticulum membrane (GO:0005789) |
| • integral component of membrane (GO:0016021) | • axon (GO:0030424) |
| • neuron projection (GO:0043005) | • synaptic vesicle endocytosis (GO:0048488) |
| • membrane organization (GO:0061024) |
Pathways
• Reticulon-mediated ER tubulation
• Endoplasmic reticulum organization
• Vesicle trafficking
Protein Summary
Reticulon 2 is a 545-amino acid protein with two major hydrophobic domains that form a hairpin-like structure, anchoring it to the ER membrane. It is highly expressed in the nervous system and plays a critical role in maintaining ER tubular morphology. Loss of reticulon 2 function leads to ER fragmentation and impaired axonal transport, underlying the pathogenesis of hereditary spastic paraplegia type 12.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTN2 Knockout HEK293 Cell Line | EDJ-KQ5693 | Human | 6253 | Details Get a Quote |
| RTN2 Knockout A-549 Cell Line | EDJ-KQ29059 | Human | 6253 | Details Get a Quote |
| RTN2 Knockout HCT 116 Cell Line | EDJ-KQ29060 | Human | 6253 | Details Get a Quote |
| RTN2 Knockout HeLa Cell Line | EDJ-KQ29061 | Human | 6253 | Details Get a Quote |
