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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RTN2
reticulon 2
Chromosome 19 Β· 19q13.32
NCBI Gene: 6253Ensembl: ENSG00000125744.13HGNC: HGNC:10468UniProt: A8K7F2
31PubMed Papers
22Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnegative regulation of amyloid-beta formationendoplasmic reticulumneuron differentiationAutosomal dominant spastic paraplegia type 12hereditary spastic paraplegia 12neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticitySpastic paraplegia
✦AI Summary

RTN2 (reticulon 2) is an endoplasmic reticulum (ER)-resident membrane shaping protein that regulates multiple cellular processes through its distinct structural domains and subcellular localization. The gene on chromosome 19.3 produces three protein isoforms (RTN2-A, RTN2-B, RTN2-C) through alternative splicing, with particularly high expression of the shortest transcript in skeletal muscle 1. RTN2 functions as a key regulator of intracellular calcium signaling by interacting with IP3 receptors to facilitate calcium release from the ER, subsequently activating ERK signaling pathways 2. The protein contains hydrophobic regions responsible for ER association and amino-terminal domains rich in negatively charged residues with multiple phosphorylation sites 1. Disease relevance is significant, as homozygous loss-of-function RTN2 variants cause autosomal recessive distal hereditary motor neuropathy with lower limb spasticity, characterized by early-onset weakness and slowly progressive disease course 3. Heterozygous mutations lead to autosomal dominant spastic paraplegia-12 (SPG12), presenting with variable phenotypes including visual abnormalities, seizures, and coordination dysfunction 4. Additionally, RTN2 overexpression promotes gastric cancer metastasis through ER calcium signaling and epithelial-to-mesenchymal transition 2, with its stability enhanced by O-GlcNAcylation post-translational modifications 5. RTN2 has also been identified as a potential circadian clock gene with elevated expression in ovarian cancer 6.

Sources cited
1
RTN2 gene structure, alternative splicing producing three isoforms, and high skeletal muscle expression
PMID: 9693037
2
Homozygous RTN2 variants cause autosomal recessive distal motor neuropathy with spasticity
PMID: 38527963
3
RTN2 promotes gastric cancer metastasis via IP3R interaction and ER calcium signaling
PMID: 35428758
4
Heterozygous RTN2 mutations cause SPG12 with variable complicated phenotypes
PMID: 35684947
5
O-GlcNAcylation enhances RTN2 protein stability and oncogenic functions
PMID: 37196774
6
RTN2 identified as circadian clock gene with elevated expression in ovarian cancer
PMID: 36177918
Disease Associationsβ“˜22
Autosomal dominant spastic paraplegia type 12Open Targets
0.74Strong
hereditary spastic paraplegia 12Open Targets
0.73Strong
neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticityOpen Targets
0.57Moderate
Spastic paraplegiaOpen Targets
0.53Moderate
distal hereditary motor neuropathyOpen Targets
0.51Moderate
Lower limb spasticityOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.19Weak
hereditary spastic paraplegiaOpen Targets
0.19Weak
autosomal dominant complex spastic paraplegiaOpen Targets
0.12Weak
gastric cancerOpen Targets
0.08Suggestive
hemorrhageOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
gastric ulcerOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
COVID-19Open Targets
0.06Suggestive
infectionOpen Targets
0.05Suggestive
respiratory system diseaseOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
hyperproinsulinemiaOpen Targets
0.04Suggestive
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticityUniProt
Spastic paraplegia 12, autosomal dominantUniProt
Pathogenic Variants15
NM_005619.5(RTN2):c.926del (p.Gly309fs)Pathogenic
Hereditary spastic paraplegia 12|Spastic paraplegia
β˜…β˜…β˜†β˜†2024β†’ Residue 309
NM_005619.5(RTN2):c.148G>T (p.Glu50Ter)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia 12|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 50
NM_005619.5(RTN2):c.170del (p.Gly57fs)Pathogenic
Spastic paraplegia|Hereditary spastic paraplegia 12
β˜…β˜…β˜†β˜†2019β†’ Residue 57
NM_005619.5(RTN2):c.831G>A (p.Trp277Ter)Pathogenic
Spastic paraplegia
β˜…β˜†β˜†β˜†2025β†’ Residue 277
NM_005619.5(RTN2):c.1154del (p.Leu385fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 385
NM_005619.5(RTN2):c.1380+1G>TLikely pathogenic
Spastic paraplegia
β˜…β˜†β˜†β˜†2020
NM_005619.5(RTN2):c.1497+2T>CLikely pathogenic
not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜†β˜†β˜†2020
NM_005619.5(RTN2):c.37G>T (p.Glu13Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 13
NM_005619.5(RTN2):c.1167C>A (p.Cys389Ter)Pathogenic
Spastic paraplegia
β˜…β˜†β˜†β˜†2018β†’ Residue 389
NM_005619.5(RTN2):c.265C>T (p.Gln89Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 89
NM_005619.5(RTN2):c.103C>T (p.Arg35Ter)Pathogenic
Hereditary spastic paraplegia 12
β˜†β˜†β˜†β˜†2024β†’ Residue 35
NM_005619.5(RTN2):c.287del (p.Pro96fs)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
β˜†β˜†β˜†β˜†2024β†’ Residue 96
NM_005619.5(RTN2):c.701_702dup (p.Leu235fs)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
β˜†β˜†β˜†β˜†2024β†’ Residue 235
NM_005619.5(RTN2):c.79G>T (p.Gly27Ter)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
β˜†β˜†β˜†β˜†2024β†’ Residue 27
NM_005619.5(RTN2):c.178dup (p.Arg60fs)Pathogenic
Hereditary spastic paraplegia 12|Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
β˜†β˜†β˜†β˜†2012β†’ Residue 60
View on ClinVar β†—
Related Genes
ATL1Protein interaction85%REEP5Protein interaction84%RTN1Protein interaction83%SPASTProtein interaction83%REEP1Protein interaction77%REEP2Protein interaction76%
Tissue Expression6 tissues
Brain
100%
Heart
35%
Lung
30%
Liver
9%
Ovary
5%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
RTN2ATL1REEP5RTN1SPASTREEP1REEP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75298
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.75LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.43–0.75]
RankingsWhere RTN2 stands among ~20K protein-coding genes
  • #11,791of 20,598
    Most Researched31
  • #2,479of 5,498
    Most Pathogenic Variants15
  • #5,916of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedRTN2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
cDNA cloning, genomic organization, and expression of the human RTN2 gene, a member of a gene family encoding reticulons.
PMID: 9693037
Genomics Β· 1998
1.00
2
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
PMID: 38527963
Brain Β· 2024
0.90
3
Reticulon 2 promotes gastric cancer metastasis via activating endoplasmic reticulum Ca
PMID: 35428758
Cell Death Dis Β· 2022
0.80
4
New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
PMID: 35684947
Ann Clin Transl Neurol Β· 2022
0.70
5
O-GlcNAcylation enhances Reticulon 2 protein stability and its promotive effects on gastric cancer progression.
PMID: 37196774
Cell Signal Β· 2023
0.60