Entity Details

Primary name GRIK2
Entity type gene
Source Source Link

Details

PrimaryID2898
RefseqGeneNG_009224
SymbolGRIK2
Nameglutamate ionotropic receptor kainate type subunit 2
Chromosome6
Location6q16.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-12-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGRIK2_HUMAN

GO terms

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GOName
GO:0001662 behavioral fear response
GO:0005234 extracellularly glutamate-gated ion channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006874 cellular calcium ion homeostasis
GO:0007215 glutamate receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0008066 glutamate receptor activity
GO:0014069 postsynaptic density
GO:0015276 ligand-gated ion channel activity
GO:0015277 kainate selective glutamate receptor activity
GO:0019228 neuronal action potential
GO:0030165 PDZ domain binding
GO:0031624 ubiquitin conjugating enzyme binding
GO:0031625 ubiquitin protein ligase binding
GO:0032839 dendrite cytoplasm
GO:0032983 kainate selective glutamate receptor complex
GO:0035249 synaptic transmission, glutamatergic
GO:0038023 signaling receptor activity
GO:0042734 presynaptic membrane
GO:0042802 identical protein binding
GO:0043113 receptor clustering
GO:0043195 terminal bouton
GO:0043204 perikaryon
GO:0043524 negative regulation of neuron apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
GO:0045211 postsynaptic membrane
GO:0046328 regulation of JNK cascade
GO:0048169 regulation of long-term neuronal synaptic plasticity
GO:0048172 regulation of short-term neuronal synaptic plasticity
GO:0050804 modulation of chemical synaptic transmission
GO:0050806 positive regulation of synaptic transmission
GO:0051402 neuron apoptotic process
GO:0051967 negative regulation of synaptic transmission, glutamatergic
GO:0060080 inhibitory postsynaptic potential
GO:0098686 hippocampal mossy fiber to CA3 synapse
GO:0098978 glutamatergic synapse
GO:0099507 ligand-gated ion channel activity involved in regulation of presynaptic membrane potential
GO:0120169 detection of cold stimulus involved in thermoception
GO:1904315 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential

Diseases

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Disease IDSourceNameDescription
611092 OMIMMental retardation, autosomal recessive 6 (MRT6)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT6 patients display mild to severe mental retardation and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal. The disease is caused by variants affecting the gene represented in this entry.