Gene: CACNG2

Alternate names for this Gene: MRD10

Gene Summary: 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: calcium voltage-gated channel auxiliary subunit gamma 2

Type of Gene: protein-coding

rs6000329 in CACNG2 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6000351 in CACNG2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.