RTN4RL2 Gene - Reticulon 4 Receptor Like 2

Comprehensive genomic and functional analysis of RTN4RL2, a member of the reticulon 4 receptor family involved in axonal growth inhibition and neural development.

Gene Information Card

Symbol RTN4RL2
Full Name Reticulon 4 Receptor Like 2
Gene Type Protein coding
Chromosomal Location 11q13.2
NCBI Gene ID 349667 ncbi.nlm.nih.gov/gene/349667
Ensembl ID ENSG00000186907
UniProt ID Q86UN2
OMIM ID 610850
HGNC ID 21394
Aliases NGRH2, Nogo receptor-like 2

Description

RTN4RL2 (Reticulon 4 Receptor Like 2) 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 and playing a role in neural development and regeneration. It is predominantly expressed in the nervous system.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Schizophrenia Potential involvement in neural connectivity; altered expression may contribute to synaptic dysfunction. Limited; expression studies in postmortem brain tissue (NCBI Gene, OMIM)
Multiple Sclerosis May influence axonal regeneration failure due to myelin inhibition. Inferred from functional homology; not directly validated in large cohorts (UniProt)

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Spinal cord 8.3 Medium
Testis 2.1 Low
Adrenal gland 1.5 Low
Liver 0.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 5.8 Neuronal model
U-87 MG (glioblastoma) 3.2 Glial model
HEK293 (embryonic kidney) 0.1 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.487C>T (p.Arg163Trp) Missense <0.01% Unknown; predicted benign (ClinVar)
c.1024G>A (p.Val342Met) Missense <0.01% Unknown; predicted benign (ClinVar)
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.

Gene Ontology (GO)

• receptor activity (GO:0004872) plasma membrane (GO:0005886)
signal transduction (GO:0007165) negative regulation of neuron projection development (GO:0010976)
• anchored component of membrane (GO:0031225)

Pathways

Nogo receptor signaling (R-HSA-193697)
Axon guidance (R-HSA-422475)

Protein Summary

The RTN4RL2 protein (UniProt Q86UN2) is a 420-amino acid GPI-anchored receptor with a signal peptide and a conserved Nogo receptor domain. It localizes to the plasma membrane and binds myelin-associated inhibitors (e.g., Nogo-66, MAG, OMgp) to inhibit axonal growth. It is involved in neural development and regeneration, and its expression is enriched in the central nervous system.

Related Products

Product name Cat.No. Species Gene ID
RTN4RL2 Knockout HEK293 Cell Line EDJ-KQ15143 Human 349667 Details Get a Quote
RTN4RL2 Knockout A-549 Cell Line EDJ-KQ45742 Human 349667 Details Get a Quote
RTN4RL2 Knockout HCT 116 Cell Line EDJ-KQ45743 Human 349667 Details Get a Quote
RTN4RL2 Knockout HeLa Cell Line EDJ-KQ59847 Human 349667 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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