RTN2

This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]

Full Name

Reticulon 2

Function

Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity (PubMed:15286784).
Enhances trafficking of the glutamate transporter SLC1A1/EAAC1 from the endoplasmic reticulum to the cell surface (By similarity).
Plays a role in the translocation of SLC2A4/GLUT4 from intracellular membranes to the cell membrane which facilitates the uptake of glucose into the cell (By similarity).

Biological Process

Biological Process gene expressionIEA:Ensembl
Biological Process intracellular protein transmembrane transportISS:UniProtKB
Biological Process negative regulation of amyloid-beta formationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of glucose importISS:UniProtKB

Cellular Location

Endoplasmic reticulum membrane
Sarcoplasmic reticulum membrane
Cell membrane
Cell membrane, sarcolemma
Cell membrane, sarcolemma, T-tubule
Cytoplasm, myofibril, sarcomere, Z line
Cytoplasm, cytoskeleton
Localizes to intermediate filaments in mononucleated myoblasts and to Z lines in mature myotubes.

Involvement in disease

Spastic paraplegia 12, autosomal dominant (SPG12):
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.