Glutamate Receptor, Ionotropic, N-Methyl-D-Aspartate, Subunit 2A

Alternative Names

  • GRIN2A
  • N-Methyl-D-Aspartate Receptor Channel, Subunit Epsilon-1
  • NMDAR2A
  • NR2A
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OMIM Number

138253

NCBI Gene ID

2903

Uniprot ID

Q12879

Length

429,505 bases

No. of Exons

16

No. of isoforms

2

Protein Name

Glutamate receptor ionotropic, NMDA 2A

Molecular Mass

165283 Da

Amino Acid Count

1464

Genomic Location

chr16:9,753,404-10,182,908

Gene Map Locus
16p13.2

Description

This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001134407.3:c.905C>TSaudi ArabiaNC_000016.10:g.9938061G>ALikely PathogenicEpilepsy, Focal, with Speech Disorder and with or without Impaired Intellectual DevelopmentNG_011812.2:g.249694C>T; NM_001134407.3:c.905C>T; NP_001127879.1:p.Ala302Val2141629886
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