RTN4RL1 Gene
Reticulon 4 Receptor Like 1
Gene Information Card
| Symbol | RTN4RL1 |
|---|---|
| Full Name | Reticulon 4 Receptor Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 146760 ncbi.nlm.nih.gov/gene/146760 |
| Ensembl ID | ENSG00000108559 |
| UniProt ID | Q86UN3 |
| OMIM ID | 610850 |
| HGNC ID | 23349 |
| Aliases | NGRH2, Nogo receptor-like 2, Nogo-66 receptor homolog 2 |
Description
RTN4RL1 (Reticulon 4 Receptor Like 1) is a protein-coding gene that encodes a member of the reticulon 4 receptor family. The encoded protein is a glycosylphosphatidylinositol (GPI)-anchored receptor that binds Nogo-66 and other myelin-associated inhibitors, mediating axonal growth inhibition in the central nervous system. It is involved in neuronal regeneration and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered expression of RTN4RL1 may affect neuronal connectivity and synaptic function, contributing to schizophrenia pathophysiology. | Association reported in genetic studies (PMID: 20628086) |
| Multiple Sclerosis | RTN4RL1 may modulate axonal regeneration inhibition in demyelinating lesions. | Expression changes observed in MS lesions (PMID: 15689449) |
| Spinal Cord Injury | RTN4RL1 mediates myelin-associated inhibition of axonal outgrowth, limiting recovery after injury. | Functional studies in animal models (PMID: 12809617) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal Cord | 8.3 | Low |
| Testis | 1.2 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Moderate expression |
| U-87 MG (glioblastoma) | 9.8 | Low expression |
| HEK293 (embryonic kidney) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.457G>A (p.Val153Met) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity (GO:0004872) | • plasma membrane (GO:0005886) |
| • signal transduction (GO:0007165) | • anchored component of membrane (GO:0031225) |
| • synapse (GO:0045202) |
Pathways
• Axon guidance (Reactome: R-HSA-422475)
• Nogo receptor signaling (Reactome: R-HSA-193704)
Protein Summary
The RTN4RL1 protein (UniProt Q86UN3) is a 420-amino acid GPI-anchored receptor with a signal peptide and a Nogo-66 binding domain. It is expressed predominantly in the nervous system and functions as a receptor for myelin-associated inhibitors (e.g., Nogo-66, MAG, OMgp), mediating growth cone collapse and inhibition of neurite outgrowth. It plays a role in limiting axonal regeneration after injury and in synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTN4RL1 Knockout HEK293 Cell Line | EDJ-KQ9769 | Human | 146760 | Details Get a Quote |
| RTN4RL1 Knockout A-549 Cell Line | EDJ-KQ37895 | Human | 146760 | Details Get a Quote |
| RTN4RL1 Knockout HCT 116 Cell Line | EDJ-KQ37897 | Human | 146760 | Details Get a Quote |
| RTN4RL1 Knockout HeLa Cell Line | EDJ-KQ58555 | Human | 146760 | Details Get a Quote |
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