GRID2

Chr 4AR

glutamate ionotropic receptor delta type subunit 2

Also known as: GluD2, SCAR18

NCBI Gene: 2895 ENSG00000152208 UniProt: O43424 OMIM: 602368

This protein is an ionotropic glutamate receptor family member expressed selectively in cerebellar Purkinje cells that mediates synaptic organization and long-term depression at parallel fiber-Purkinje cell synapses. Mutations cause spinocerebellar ataxia, autosomal recessive 18 through loss of cerebellar Purkinje cells via cell-autonomous apoptosis. The inheritance pattern is autosomal recessive.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spinocerebellar ataxia, autosomal recessive 18MIM #616204

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· G2P