Version 5.4
Homo sapiens Protein: RTN2
Summary
InnateDB Protein IDBP-381960.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RTN2
Protein Name reticulon 2
Synonyms NSP2; NSPL1; NSPLI; SPG12;
Species Homo sapiens
Ensembl Protein ENSP00000398178
InnateDB Gene IDBG-57622 (RTN2)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations Spastic paraplegia 12, autosomal dominant (SPG12) [MIM:604805]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269PubMed:22232211}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Isoform RTN2-C is highly expressed in skeletal muscle. {ECO:0000269PubMed:9693037}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0008219 cell death
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0030176 integral component of endoplasmic reticulum membrane
Protein Structure and Domains
PDB ID
InterPro IPR003388 Reticulon
PFAM PF02453
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O75298
PhosphoSite PhosphoSite-O75298
TrEMBL
UniProt Splice Variant
Entrez Gene 6253
UniGene Hs.47517
RefSeq NP_996784
HUGO HGNC:10468
OMIM 603183
CCDS CCDS46114
HPRD 04421
IMGT
EMBL AF004222 AF004223 AF004224 AF038540 BK001686 BK001687 BK001688
GenPept AAC14910 AAC32542 AAC32543 AAC32544 DAA01932 DAA01933 DAA01944

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca