CACNG2 gene

calcium voltage-gated channel auxiliary subunit gamma 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 the disorder autosomal dominant mental retardation-10 (MRD10). [provided by RefSeq, Apr 2017]

From UniProt:

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.

From NCBI Gene:

  • Mental retardation, autosomal dominant 10

From UniProt:

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. [MIM:614256]

Cytogenetic Location: 22q12.3, which is the long (q) arm of chromosome 22 at position 12.3

Molecular Location: base pairs 36,560,869 to 36,702,645 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q12.3, which is the long (q) arm of chromosome 22 at position 12.3