Aliases for GRID2 Gene
External Ids 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 Receptor, Ionotropic, Delta 2) is a Protein Coding gene. Diseases associated with GRID2 include spinocerebellar ataxia, autosomal recessive 18 and autosomal recessive congenital cerebellar ataxia due to grid2 deficiency. Among its related pathways are CREB Pathway and CREB Pathway. GO annotations related to this gene include PDZ domain binding and extracellular-glutamate-gated ion channel activity. An important paralog of this gene is GRIA4.
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