About: GRIN2B wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • GRIN2B wt Allele
equivalentClass
OMIM_Number
  • 138252
GenBank_Accession_Number
  • NM_000834
Semantic_Type
  • Gene or Genome
Preferred_Name
  • GRIN2B wt Allele
NCI_META_CUI
  • CL436787
EntrezGene_ID
  • 2904
HGNC_ID
  • HGNC:4586
FULL_SYN
  • NR2BSYNCI
  • MRD6SYNCI
  • Glutamate Receptor, Ionotropic, N-Methyl D-Aspartate 2B wt AlleleSYNCI
  • GRIN2B wt AllelePTNCI
  • hNR3SYNCI
  • GluN2BSYNCI
  • NMDAR2BSYNCI
  • MGC142180SYNCI
  • MGC142178SYNCI
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 [NMDA] receptor subunit epsilon-2 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.NCI
DesignNote
  • Mutation of the GRIN2B gene may be associated with autism. (Nature. 2012; 485:246-250.)
code
  • C102459
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