GRID2 (Entrez ID: 2895)

Entrez Gene ID 2895
Official Gene Symbol GRID2 (GeneCards)
Full name glutamate ionotropic receptor delta type subunit 2
Location 4q22.1-q22.2
Other ids Vega : OTTHUMG00000130975
MIM : 602368
HGNC : HGNC:4576
Ensembl : ENSG00000152208
Other names GlD2, SCAR18
Summary 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]

Variants

Found 14 variants in this database.