GRIN2A wt Allele

Preferred Label : GRIN2A wt Allele;

NCIt synonyms : NMDAR2A; NR2A; EPND; Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2A wt Allele; FESD; LKS; GluN2A; Glutamate Receptor, Ionotropic, N-Methyl-D-Aspartate Subunit 2A Gene;

NCIt definition : Human GRIN2A wild-type allele is located in the vicinity of 16p13.2 and is approximately 429 kb in length. This allele, which encodes glutamate receptor ionotropic, NMDA 2A protein, plays a role in both NMDA binding and ion transport. Mutations in the gene are associated with epilepsy, ovarian cancer and melanoma.;

GenBank Accession Number : NM_000833;

Details

Origin ID

C98147;

UMLS CUI

C3273845;

OMIM relation
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 2a [OMIM gene]
See also inter- (CISMeF)
- Epilepsy with neurodevelopmental defects [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Long-Term Potentiation Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- Nitric Oxide Signaling Pathway [NCIt concept]
- Reelin Signaling Pathway PID [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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