GRIN2B wt Allele

Preferred Label : GRIN2B wt Allele;

NCIt synonyms : hNR3; MGC142178; GluN2B; NMDAR2B; NR2B; MRD6; MGC142180; Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2B wt Allele; Glutamate Receptor, Ionotropic, N-Methyl-D-Aspartate 2B Gene; EIEE27;

NCIt definition : Human GRIN2B wild-type allele is located in the vicinity of 12p12 and is approximately 419 kb in length. This allele, which encodes glutamate receptor ionotropic, NMDA 2B protein, is involved in both glutamate binding and calcium transport. Mutation of the gene and chromosomal translocations involving the gene, t(9;12)(p23;p13.1) and t(10;12)(q21.1;p13.1), are associated with mental retardation.;

NCIt note : Mutation of the GRIN2B gene may be associated with autism. (Nature. 2012; 485:246-250.);

GenBank Accession Number : NM_000834;

Details

Origin ID

C102459;

UMLS CUI

C3538769;

OMIM relation
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 2b [OMIM gene]
See also inter- (CISMeF)
- Developmental and epileptic encephalopathy 27 [OMIM Phenotype]
- Intellectual developmental disorder, autosomal dominant 6, with or without seizures [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p12 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- ERBB4 Signaling Pathway [NCIt concept]
- Huntington's Disease 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]
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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