Aliases for GRID2 Gene
External Ids for GRID2 Gene
Previous GeneCards Identifiers for GRID2 Gene
The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]
GeneCards Summary for GRID2 Gene
GRID2 (Glutamate Ionotropic Receptor Delta Type Subunit 2) is a Protein Coding gene. Diseases associated with GRID2 include Spinocerebellar Ataxia, Autosomal Recessive 18 and Spinocerebellar Ataxia 5. Among its related pathways are Peptide ligand-binding receptors and CREB Pathway. GO annotations related to this gene include PDZ domain binding and ionotropic glutamate receptor activity. An important paralog of this gene is GRID1.
UniProtKB/Swiss-Prot for GRID2 Gene
Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists.