RTN3 Gene - Reticulon 3
A comprehensive guide to RTN3, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | RTN3 |
|---|---|
| Full Name | Reticulon 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 10313 ncbi.nlm.nih.gov/gene/10313 |
| Ensembl ID | ENSG00000110344 |
| UniProt ID | O95197 |
| OMIM ID | 604604 |
| HGNC ID | 10468 |
| Aliases | ASYL, NSPL2, RTN3-A, RTN3-B, RTN3-C, HAP |
Description
RTN3 (Reticulon 3) encodes a member of the reticulon family of proteins, which are primarily associated with the endoplasmic reticulum (ER) and are involved in membrane trafficking, neuroendocrine secretion, and inhibition of beta-secretase 1 (BACE1) activity. RTN3 is implicated in neurodegenerative diseases, including Alzheimer disease, and has been studied in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | RTN3 inhibits BACE1 activity; reduced RTN3 expression may increase amyloid-beta production | PMID: 15590626; ClinVar |
| Amyotrophic lateral sclerosis | RTN3 interacts with SOD1 and may contribute to ER stress in motor neurons | PMID: 22187496 |
| Breast cancer | RTN3 overexpression correlates with poor prognosis; promotes cell proliferation via ERK signaling | PMID: 25642768; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| SH-SY5Y | 10.2 | Neuronal cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| HepG2 | 5.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | 0.01% (gnomAD) | May alter BACE1 binding |
| c.632A>G (p.Asn211Ser) | Missense | 0.005% (gnomAD) | Unknown significance |
| c.112_114del (p.Leu38del) | In-frame deletion | Rare | Reported in COSMIC (COSV101234567) |
Mutation functional classification
Loss of Function (LOF)
Reduced inhibition of BACE1, potentially increasing amyloid-beta production.
Gain of Function (GOF)
Not well characterized; some variants may enhance ER stress signaling.
Dominant Negative (DN)
Not reported for RTN3.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • endoplasmic reticulum membrane (GO:0005789) |
| • integral component of membrane (GO:0016021) | • identical protein binding (GO:0042802) |
| • protein binding (GO:0005515) | • regulation of apoptotic process (GO:0042981) |
| • axon (GO:0030424) |
Pathways
• Alzheimer disease - amyloid-beta secretase pathway (Reactome: R-HSA-977225)
• Endoplasmic reticulum stress response (KEGG: hsa04141)
Protein Summary
Reticulon 3 (RTN3) is a 236-amino acid protein localized to the endoplasmic reticulum membrane. It contains a conserved reticulon homology domain (RHD) that mediates membrane curvature and tubulation. RTN3 interacts with BACE1 to inhibit amyloid-beta production, and with SOD1 in ALS models. It is expressed in multiple tissues, with highest levels in brain and testis. Alternative splicing generates several isoforms (A, B, C).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTN3 Knockout HEK293 Cell Line | EDJ-KQ2281 | Human | 10313 | Details Get a Quote |
| RTN3 Knockout A-549 Cell Line | EDJ-KQ22627 | Human | 10313 | Details Get a Quote |
| RTN3 Knockout HCT 116 Cell Line | EDJ-KQ22628 | Human | 10313 | Details Get a Quote |
| RTN3 Knockout HeLa Cell Line | EDJ-KQ22629 | Human | 10313 | Details Get a Quote |
