GRID2 Chromosome 4
Glutamate ionotropic receptor delta type subunit 2
Upload your DNA to see your personal genotypes for variants in GRID2.
What This Gene Does
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]
Gene Info
Gene Group
Glutamate ionotropic receptor delta type subunits
Locus Type
gene with protein product
Location
4q22.1-q22.2
Ensembl
ENSG00000152208
Associated Conditions (4)
Autosomal recessive spinocerebellar ataxia 18
GRID2-related disorder
Inborn genetic diseases
See cases
Key Variants
RS144455304
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 18, GRID2-related disorder, Autosomal recessive spinocerebellar ataxia 18
Health Risk
RS146342092
Conflicting classifications of pathogenicity
GRID2-related disorder, Inborn genetic diseases, GRID2-related disorder
Health Risk
RS202203896
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS538573274
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762100538
Conflicting classifications of pathogenicity
Health Risk
RS1470494014
Likely pathogenic
Health Risk
RS1560556892
Likely pathogenic
Health Risk
RS1579319300
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18
Health Risk
RS2546697855
Likely pathogenic
Health Risk
RS368143665
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18
Health Risk
RS1726914026
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1732687174
Pathogenic
Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144455304 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 18, GRID2-related disorder, Autosomal recessive spinocerebellar ataxia 18 |
| RS146342092 | Health Risk | Conflicting classifications of pathogenicity | GRID2-related disorder, Inborn genetic diseases, GRID2-related disorder |
| RS202203896 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS538573274 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762100538 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1470494014 | Health Risk | Likely pathogenic | — |
| RS1560556892 | Health Risk | Likely pathogenic | — |
| RS1579319300 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18 |
| RS2546697855 | Health Risk | Likely pathogenic | — |
| RS368143665 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18 |
| RS1726914026 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1732687174 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18 |
| RS750331613 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18 |
| RS2546697844 | Health Risk | Pathogenic/Likely pathogenic | See cases, Autosomal recessive spinocerebellar ataxia 18, See cases |
| RS2546697890 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |