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RTN2
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For Research Use Only. Not For Clinical Use.
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.
Protein class
Disease related genes, Human disease related genes
Predicted location
Membrane
Single cell type specificity
Group enriched (Extravillous trophoblasts, Cytotrophoblasts, Syncytiotrophoblasts, Skeletal myocytes)
Immune cell specificity
Group enriched (basophil, eosinophil, plasmacytoid DC)
Cell line specificity
Cell line enhanced (RH-30, RT4)
Interaction
Interacts with isoform 1 but not isoform 3 of SPAST (PubMed:22232211). Interacts with BACE1 (PubMed:15286784). Interacts (via first transmembrane domain) with ARL6IP5/GTRAP3-18 (By similarity). Interacts (via N-terminus) with SLC1A1/EAAC1; the interaction promotes cell surface expression of SLC1A1 (By similarity). [Isoform RTN2-B]: Interacts with TMEM33.
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