GRID2

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.

glutamate ionotropic receptor delta type subunit 2

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. Promotes synaptogenesis and mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis of cerebellar parallel fiber-Purkinje cell (PF-PC) synapses through the beta-NRX1-CBLN1-GRID2 triad complex (PubMed:27418511).

Cellular protein localization Source: BHF-UCL
Cerebellar granule cell differentiation Source: BHF-UCL
Excitatory postsynaptic potential Source: BHF-UCL
Excitatory synapse assembly Source: UniProtKB
Glutamate receptor signaling pathway Source: ProtInc
Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules Source: BHF-UCL
Modulation of chemical synaptic transmission Source: GO_Central
Positive regulation of long-term synaptic depression Source: UniProtKB
Positive regulation of synapse assembly Source: UniProtKB
Prepulse inhibition Source: BHF-UCL
Regulation of neuron apoptotic process Source: BHF-UCL
Regulation of neuron projection development Source: Ensembl
Regulation of postsynaptic density assembly Source: Ensembl
Synaptic transmission, glutamatergic Source: BHF-UCL

Cell membrane; Postsynaptic cell membrane

Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18):
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability.

Extracellular: 24-566
Helical: 567-587
Cytoplasmic: 588-635
Helical: 636-656
Extracellular: 657-830
Helical: 831-851
Cytoplasmic: 852-1007