Previous symbols: NMDAR2A. Aliases: GluN2A, NR2A.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep | causative |
mechanism: Heterogeneous Genetic Etiology
|
| GRIN2A-Related Epileptic Encephalopathy and Intellectual Disability | causative germline gain of functionloss of function |
mechanism: GRIN2A Missense Variant in the Transmembrane and Linker Domains; GRIN2A Null or Ligand-Binding/Amino-Terminal Domain Missense Variant; GluN2A C-Terminal Domain Truncation and Receptor Mistargeting
variant: GRIN2A p.Asn615Lys (c.1845C>A); GRIN2A p.Leu812Met (c.2434C>A); GRIN2A p.Ser644Gly
animal model: Mus musculus (mouse)
|
| Landau-Kleffner Syndrome | causative | |
| Pediatric Acute-onset Neuropsychiatric Syndrome | susceptibility germline | |
| Self-Limited Epilepsy with Centrotemporal Spikes | susceptibility |
mechanism: Genetic Predisposition to Cortical Hyperexcitability
|
| Schizophrenia |
untyped
Risk Factor
|
mechanism: Abnormality of Glutamergic Signaling
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| complex neurodevelopmental disorder MONDO:0100038 | AD | Definitive 2019-07-16 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.