GRIN2A Chromosome 16
Glutamate ionotropic receptor NMDA type subunit 2A
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What This Gene Does
This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Glutamate ionotropic receptor NMDA type subunits
Locus Type
gene with protein product
Location
16p13.2
Ensembl
ENSG00000183454
Associated Conditions (19)
Landau-Kleffner syndrome
GRIN2A-related complex neurodevelopmental disorder
Inborn genetic diseases
Focal epilepsy
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Epileptic encephalopathy
Self-limited epilepsy with centrotemporal spikes
Intellectual disability
Complex neurodevelopmental disorder
CTCF-related neurodevelopmental disorder
Neurodevelopmental abnormality
Dystonia
intellectual disability and language impairment
See cases
Neoplasm
Seizure
Abnormal cerebral morphology
Neurodevelopmental disorder
Epilepsy
Key Variants
RS1006328489
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1057518070
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1057519248
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1057522803
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder, Landau-Kleffner syndrome
Health Risk
RS1057523027
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1064794679
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1064796658
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS1064796981
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Landau-Kleffner syndrome
Health Risk
RS113847665
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
Health Risk
RS1163766811
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
Health Risk
RS1177789326
Conflicting classifications of pathogenicity
Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome
Health Risk
RS1199762302
Conflicting classifications of pathogenicity
Inborn genetic diseases, Landau-Kleffner syndrome, Inborn genetic diseases
Health Risk
All Variants (410)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2141345683 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141346061 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141346210 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141346217 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141369514 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141482042 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141631138 | Health Risk | Likely pathogenic | CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder |
| RS2141631426 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141632382 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141632418 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141632937 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141633312 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2142389389 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2142390867 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2505966575 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2505968287 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2505980836 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2505980883 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2506094896 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2506111442 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2506111451 | Health Risk | Likely pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2506111835 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2543139833 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2543140344 | Health Risk | Likely pathogenic | — |
| RS387906637 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS397518447 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS397518450 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Inborn genetic diseases, Landau-Kleffner syndrome |
| RS397518471 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS756382250 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS775819322 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS776791010 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS779219028 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS796052547 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS868762895 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS879253875 | Health Risk | Likely pathogenic | Dystonia, intellectual disability and language impairment, Dystonia |
| RS886039604 | Health Risk | Likely pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1060503228 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1295182898 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1360906241 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1439688451 | Health Risk | Pathogenic | Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes |
| RS1555455618 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1555455620 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1555455727 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1555455815 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1555482761 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1555491453 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1555491538 | Health Risk | Pathogenic | Inborn genetic diseases, See cases, Landau-Kleffner syndrome |
| RS1555492769 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1555492790 | Health Risk | Pathogenic | Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS1555492799 | Health Risk | Pathogenic | — |