GRIN2D wt Allele

Preferred Label : GRIN2D wt Allele;

NCIt synonyms : Estrogen Receptor Binding CpG Island Gene; GluN2D; Glutamate Ionotropic Receptor NMDA Type Subunit 2D wt Allele; NR2D; Glutamate Receptor, Ionotropic, N-Methyl-D-Aspartate, Subunit 2D Gene; EB11; N-Methyl-D-Aspartate Receptor Channel, Subunit Epsilon-4 Gene; EIEE46; DEE46; Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2D Gene; NMDAR2D;

NCIt definition : Human GRIN2D wild-type allele is located in the vicinity of 19q13.33 and is approximately 51 kb in length. This allele, which encodes glutamate receptor ionotropic, NMDA 2D protein, plays a role in calcium and magnesium transport. Mutation of the gene is associated with developmental and epileptic encephalopathy 46.;

NCI Metathesaurus CUI : CL1905101;

GenBank Accession Number : U77783;

Details

Origin ID

C191411;

UMLS CUI

C5780767;

OMIM relation
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 2d [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.33 [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]
- Huntington's Disease Pathway [NCIt concept]
- Long-Term Potentiation Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- Prion Disease 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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