CACNG2
Function
Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.
Involvement in disease
Intellectual developmental disorder, autosomal dominant 10
MRD10
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4.
Sequence Similarities
Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
Tissue Specificity
Brain.
Cellular localization
- Membrane
- Multi-pass membrane protein
- Synapse
- Synaptosome
Alternative names
Voltage-dependent calcium channel gamma-2 subunit, Neuronal voltage-gated calcium channel gamma-2 subunit, Transmembrane AMPAR regulatory protein gamma-2, TARP gamma-2, CACNG2