Cacng2

The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability.

calcium voltage-gated channel auxiliary subunit gamma 2

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.

Eye blink reflex Source: Ensembl
Membrane depolarization Source: Reactome
Membrane hyperpolarization Source: Ensembl
Neuromuscular junction development Source: Ensembl
Neurotransmitter receptor internalization Source: GO_Central
Neurotransmitter receptor transport, postsynaptic endosome to lysosome Source: GO_Central
Positive regulation of AMPA receptor activity Source: Ensembl
Positive regulation of protein localization to basolateral plasma membrane Source: Ensembl
Positive regulation of synaptic transmission, glutamatergic Source: GO_Central
Postsynaptic neurotransmitter receptor diffusion trapping Source: GO_Central
Protein targeting to membrane Source: Ensembl
Regulation of AMPA receptor activity Source: UniProtKB
Response to calcium ion Source: Ensembl
Transmission of nerve impulse Source: GO_Central

Membrane; Synaptosome

Mental retardation, 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.

Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4.