Entity Details

Primary name GRIN2D
Entity type gene
Source Source Link

Details

PrimaryID2906
RefseqGeneNG_052829
SymbolGRIN2D
Nameglutamate ionotropic receptor NMDA type subunit 2D
Chromosome19
Location19q13.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-11-16
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNMDE4_HUMAN

GO terms

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GOName
GO:0001964 startle response
GO:0004970 ionotropic glutamate receptor activity
GO:0004972 NMDA glutamate receptor activity
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007420 brain development
GO:0008344 adult locomotory behavior
GO:0015276 ligand-gated ion channel activity
GO:0017146 NMDA selective glutamate receptor complex
GO:0022849 glutamate-gated calcium ion channel activity
GO:0038023 signaling receptor activity
GO:0048167 regulation of synaptic plasticity
GO:0051930 regulation of sensory perception of pain
GO:0060079 excitatory postsynaptic potential
GO:0060291 long-term synaptic potentiation
GO:0097553 calcium ion transmembrane import into cytosol
GO:0098839 postsynaptic density membrane
GO:0098976 excitatory chemical synaptic transmission

Diseases

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Disease IDSourceNameDescription
617162 OMIMDevelopmental and epileptic encephalopathy 46 (DEE46)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. The disease is caused by variants affecting the gene represented in this entry.