GRIN2D Chromosome 19
Glutamate ionotropic receptor NMDA type subunit 2D
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What This Gene Does
N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Glutamate ionotropic receptor NMDA type subunits
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000105464
Associated Conditions (4)
Inborn genetic diseases
Developmental and epileptic encephalopathy
46
GRIN2D-related disorder
Key Variants
RS1034596120
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1047808762
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1167787806
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1195376092
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 46
Health Risk
RS1206951756
Conflicting classifications of pathogenicity
Health Risk
RS1208131908
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 46, Developmental and epileptic encephalopathy
Health Risk
RS1229439041
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 46, Developmental and epileptic encephalopathy
Health Risk
RS1271025077
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1303988486
Conflicting classifications of pathogenicity
Health Risk
RS1330487131
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1340279718
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1459290952
Conflicting classifications of pathogenicity
Inborn genetic diseases, GRIN2D-related disorder, Inborn genetic diseases
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555893359 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 46, Developmental and epileptic encephalopathy |
| RS886040861 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 46, Developmental and epileptic encephalopathy |