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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RTN4R
reticulon 4 receptor
Chromosome 22 · 22q11.21
NCBI Gene: 65078Ensembl: ENSG00000040608.14HGNC: HGNC:18601UniProt: Q9BZR6
86PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedReceptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ganglioside GM1 bindingganglioside GT1b bindingextracellular exosomepositive regulation of Rho protein signal transductionschizophrenianeurodegenerative diseasehead and neck malignant neoplasiaexperimental autoimmune encephalomyelitis
✦AI Summary

RTN4R (reticulon 4 receptor) is a cell surface receptor localized to the plasma membrane and neuronal structures that regulates neurite outgrowth and neural development 1. The receptor functions as a high-affinity ligand for brain-specific angiogenesis inhibitor (BAI) adhesion-GPCRs through its leucine-rich repeat domain, with binding enabled by unusual post-translational modifications including C-mannosylation and O-fucosylation 1. RTN4R mediates differential effects on dendritic arborization, axonal elongation, and synapse formation through interactions with glial versus neuronal BAI proteins 1. In vascular biology, RTN4R functions within an RTN4-S1PR2 signaling axis that negatively regulates angiogenesis and secondary neural repair following cerebral infarction by enhancing vascular autophagy through ROCK1-BECN1 interactions 2. RTN4R also regulates ataxin-2 protein levels, with RTN4R knockdown reducing ataxin-2 and promoting axonal regeneration 3. Disease relevance includes schizophrenia, with RTN4R mapping to the 22q11.2 susceptibility locus 4, though genetic studies show weak or absent association with schizophrenia in most populations 456. RTN4R also associates with impaired glucose tolerance risk 7 and represents a therapeutic target for amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 3.

Sources cited
1
RTN4R functions as high-affinity ligand for BAI adhesion-GPCRs through leucine-rich repeat domain and regulates dendritic arborization, axonal elongation, and synapse formation
PMID: 34758294
2
RTN4-S1PR2 signaling negatively regulates angiogenesis and neural repair after cerebral infarction by enhancing vascular autophagy
PMID: 35263212
3
RTN4R knockdown reduces ataxin-2 levels and promotes axonal regeneration; RTN4R is a therapeutic target for ALS and SCA2
PMID: 36288715
4
RTN4R maps to 22q11.2 schizophrenia susceptibility locus with weak sex-specific association; does not support major role in schizophrenia
PMID: 18043741
5
No significant association between RTN4R genetic polymorphisms and schizophrenia in Chinese population
PMID: 16897606
6
RTN4R missense mutation (R189H) produces mild impairment in spatial cognition but does not support RTN4R as strong schizophrenia risk factor
PMID: 21645550
7
RTN4R is one of three proteins identified in proteomic signature for identifying impaired glucose tolerance and increased T2D risk
PMID: 36357677
8
RTN4R-binding to BAI3 is essential for restricting axonal and dendritic arborizations and enabling excitatory synapse formation
PMID: 41436737
Disease Associationsⓘ21
schizophreniaOpen Targets
0.67Moderate
neurodegenerative diseaseOpen Targets
0.32Weak
head and neck malignant neoplasiaOpen Targets
0.11Weak
experimental autoimmune encephalomyelitisOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
breast cancerOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
placenta praeviaOpen Targets
0.07Suggestive
response to stimulusOpen Targets
0.07Suggestive
colitisOpen Targets
0.07Suggestive
subarachnoid hemorrhageOpen Targets
0.07Suggestive
TendinopathyOpen Targets
0.06Suggestive
myocardial infarctionOpen Targets
0.05Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.05Suggestive
Autosomal dominant striatal neurodegenerationOpen Targets
0.05Suggestive
SepsisOpen Targets
0.05Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
nasopharyngeal carcinomaOpen Targets
0.05Suggestive
amyotrophic lateral sclerosisOpen Targets
0.04Suggestive
SchizophreniaUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAGProtein interaction100%NGFRProtein interaction100%ANPEPProtein interaction100%LINGO1Protein interaction100%TNFRSF19Protein interaction99%OMGProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Brain
64%
Ovary
17%
Heart
14%
Lung
12%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
RTN4RMAGNGFRANPEPLINGO1TNFRSF19OMG
PROTEIN STRUCTURE
Preparing viewer…
PDB1OZN · 1.52 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.05–0.31]
RankingsWhere RTN4R stands among ~20K protein-coding genes
  • #5,567of 20,598
    Most Researched86
  • #1,229of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedRTN4R
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RTN4/Nogo-A-S1PR2 negatively regulates angiogenesis and secondary neural repair through enhancing vascular autophagy in the thalamus after cerebral cortical infarction.
PMID: 35263212
Autophagy · 2022
1.00
2
Nogo Receptor 1 (RTN4R) as a candidate gene for schizophrenia: analysis using human and mouse genetic approaches.
PMID: 18043741
PLoS One · 2007
0.90
3
Proteomic signatures for identification of impaired glucose tolerance.
PMID: 36357677
Nat Med · 2022
0.80
4
RTN4/NoGo-receptor binding to BAI adhesion-GPCRs regulates neuronal development.
PMID: 34758294
Cell · 2021
0.70
5
No association between the genetic polymorphisms in the RTN4R gene and schizophrenia in the Chinese population.
PMID: 16897606
J Neural Transm (Vienna) · 2007
0.60