Glutamate Receptor, Ionotropic, Delta 2

Alternative Names

  • GRID2
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OMIM Number

602368

NCBI Gene ID

2895

Uniprot ID

O43424

Length

1,506,491 bases

No. of Exons

27

No. of isoforms

2

Protein Name

Glutamate receptor ionotropic, delta-2

Molecular Mass

113356 Da

Amino Acid Count

1007

Genomic Location

chr4:92,303,966-93,810,456

Gene Map Locus
4q22.1-q22.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000004.11:g.(?_93978239)_(94078203_?)delSaudi ArabiaNC_000004.11:g.(?_93978239)_(94078203_?)delPathogenicPathogenicSpinocerebellar Ataxia, Autosomal Recessive 18242880
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