Gene
rtn2a
- ID
- ZDB-GENE-060420-1
- Name
- reticulon 2a
- Symbol
- rtn2a Nomenclature History
- Previous Names
-
- rtn2 (1)
- zgc:136255
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to be involved in endoplasmic reticulum tubular network organization and nervous system development. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane; neuron projection; and postsynaptic density. Is expressed in skeletal muscle. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 12. Orthologous to human RTN2 (reticulon 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7162144 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 12 | Alliance | Spastic paraplegia 12, autosomal dominant | 604805 |
| Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity | 620854 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Reticulon | Reticulon 1-4 |
|---|---|---|---|---|
| UniProtKB:A0A8M2B4B6 | InterPro | 451 | ||
| UniProtKB:Q4G5K8 | InterPro | 203 | ||
| UniProtKB:A0A8M2B494 | InterPro | 205 |
Interactions and Pathways
No data available
Plasmids
No data available