TRIM2
Domain
The interaction with myosin V is dependent upon its NHL repeats, which form a beta-propeller (NHL) domain containing six blades.
Function
UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance. Plays a role in antiviral immunity and limits New World arenavirus infection independently of its ubiquitin ligase activity (PubMed:24068738).
Involvement in disease
Charcot-Marie-Tooth disease, axonal, 2R
CMT2R
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Post-translational modifications
RING-type zinc finger-dependent and UBE2D1-dependent autoubiquitination.
Sequence Similarities
Belongs to the TRIM/RBCC family.
Cellular localization
- Cytoplasm
Alternative names
KIAA0517, RNF86, TRIM2, Tripartite motif-containing protein 2, E3 ubiquitin-protein ligase TRIM2, RING finger protein 86, RING-type E3 ubiquitin transferase TRIM2