Search for a gene
GRIN2A - glutamate ionotropic receptor NMDA type subunit 2A
- Synonym(s) : GluN2A
- Previous symbols and names : NMDAR2A, glutamate receptor, ionotropic, N-methyl D-aspartate 2A
- Type : gene with protein product
- Chromosomal location : 16p13.2
- OMIM: 138253
- HGNC: 4585
- UniProtKB: Q12879
- Genatlas: GRIN2A
- GenCC: GRIN2A
- Ensembl: ENSG00000183454
- IUPHAR-DB: 456
- Reactome: Q12879
- LOVD: GRIN2A
Diseases list
- Disease-causing germline mutation(s) in Continuous spikes and waves during sleep
ORPHA:725 
- Disease-causing germline mutation(s) in Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
ORPHA:289266 - Disease-causing germline mutation(s) in Landau-Kleffner syndrome
ORPHA:98818 - Disease-causing germline mutation(s) in Rolandic epilepsy
ORPHA:1945 - Disease-causing germline mutation(s) in Rolandic epilepsy-speech dyspraxia syndrome
ORPHA:163721
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.