InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RTN2

Summary

InnateDB Protein

IDBP-57626.6

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

ENSP00000245923

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
GO:0046324	regulation of glucose import
GO:0065002	intracellular protein transmembrane transport

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0014802	terminal cisterna
GO:0016021	integral component of membrane
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0030315	T-tubule