ENSG00000164418


Homo sapiens

Features
Gene ID: ENSG00000164418
  
Biological name :GRIK2
  
Synonyms : glutamate ionotropic receptor kainate type subunit 2 / GRIK2 / Q13002
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q16.3
Gene start: 101398788
Gene end: 102070083
  
Corresponding Affymetrix probe sets: 1555375_at (Human Genome U133 Plus 2.0 Array)   1560142_at (Human Genome U133 Plus 2.0 Array)   1560265_at (Human Genome U133 Plus 2.0 Array)   1563754_at (Human Genome U133 Plus 2.0 Array)   213845_at (Human Genome U133 Plus 2.0 Array)   215655_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000397026
Ensembl peptide - ENSP00000391988
Ensembl peptide - ENSP00000405596
Ensembl peptide - ENSP00000407140
Ensembl peptide - ENSP00000313276
Ensembl peptide - ENSP00000351128
Ensembl peptide - ENSP00000358130
Ensembl peptide - ENSP00000358133
Ensembl peptide - ENSP00000358134
NCBI entrez gene - 2898     See in Manteia.
OMIM - 138244
RefSeq - XM_017010782
RefSeq - NM_001166247
RefSeq - NM_021956
RefSeq - NM_175768
RefSeq - XM_005266945
RefSeq - XM_005266946
RefSeq - XM_011535777
RefSeq - XM_011535778
RefSeq - XM_017010781
RefSeq Peptide - NP_786944
RefSeq Peptide - NP_068775
RefSeq Peptide - NP_001159719
swissprot - G3XAD3
swissprot - H7BZX7
swissprot - H7C2P5
swissprot - Q13002
swissprot - A0A0A0MR30
swissprot - A0A0A0MRL4
swissprot - F8WEZ8
Ensembl - ENSG00000164418
  
Related genetic diseases (OMIM): 611092 - Mental retardation, autosomal recessive, 6, 611092
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 GRIK2ENSDARG00000113771Danio rerio
 GRIK2ENSGALG00000015434Gallus gallus
 Grik2ENSMUSG00000056073Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GRIK3 / Q13003 / glutamate ionotropic receptor kainate type subunit 3ENSG0000016387379
GRIK1 / P39086 / glutamate ionotropic receptor kainate type subunit 1ENSG0000017118978
GRIK4 / Q16099 / glutamate ionotropic receptor kainate type subunit 4ENSG0000014940343
GRIK5 / Q16478 / glutamate ionotropic receptor kainate type subunit 5ENSG0000010573743
GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2ENSG0000012025138
GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1ENSG0000015551138
GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3ENSG0000012567538
GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4ENSG0000015257837
GRID1 / Q9ULK0 / glutamate ionotropic receptor delta type subunit 1ENSG0000018277129
GRID2 / O43424 / glutamate ionotropic receptor delta type subunit 2ENSG0000015220827
GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2AENSG0000018345421
GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2DENSG0000010546420
GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2BENSG0000027307920
GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1ENSG0000017688420
GRIN3A / Q8TCU5 / glutamate ionotropic receptor NMDA type subunit 3AENSG0000019878519
GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2CENSG0000016150919
GRIN3B / O60391 / glutamate ionotropic receptor NMDA type subunit 3BENSG0000011603218


Protein motifs (from Interpro)
Interpro ID Name
 IPR001320  Ionotropic glutamate receptor
 IPR001508  Ionotropic glutamate receptor, metazoa
 IPR001828  Receptor, ligand binding region
 IPR019594  Ionotropic glutamate receptor, L-glutamate and glycine-binding domain
 IPR028082  Periplasmic binding protein-like I


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001662 behavioral fear response IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0007215 glutamate receptor signaling pathway TAS
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0019228 neuronal action potential IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035235 ionotropic glutamate receptor signaling pathway IEA
 biological_processGO:0035249 synaptic transmission, glutamatergic IEA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0043113 receptor clustering IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0043525 positive regulation of neuron apoptotic process IEA
 biological_processGO:0046328 regulation of JNK cascade IEA
 biological_processGO:0048169 regulation of long-term neuronal synaptic plasticity IEA
 biological_processGO:0048172 regulation of short-term neuronal synaptic plasticity IMP
 biological_processGO:0050804 modulation of chemical synaptic transmission IDA
 biological_processGO:0050806 positive regulation of synaptic transmission IMP
 biological_processGO:0051402 neuron apoptotic process IEA
 biological_processGO:0051967 negative regulation of synaptic transmission, glutamatergic IEA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0060080 inhibitory postsynaptic potential IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0008328 ionotropic glutamate receptor complex IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0032839 dendrite cytoplasm IEA
 cellular_componentGO:0032983 kainate selective glutamate receptor complex IEA
 cellular_componentGO:0042734 presynaptic membrane IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043195 terminal bouton IEA
 cellular_componentGO:0043204 perikaryon IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0098794 postsynapse IEA
 molecular_functionGO:0004970 ionotropic glutamate receptor activity IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005234 extracellularly glutamate-gated ion channel activity IEA
 molecular_functionGO:0008066 glutamate receptor activity IEA
 molecular_functionGO:0015276 ligand-gated ion channel activity TAS
 molecular_functionGO:0015277 kainate selective glutamate receptor activity IDA
 molecular_functionGO:0030165 PDZ domain binding IEA
 molecular_functionGO:0031624 ubiquitin conjugating enzyme binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA


Pathways (from Reactome)
Pathway description
Activation of Na-permeable kainate receptors
Activation of Ca-permeable Kainate Receptor


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / complex
 ENSG00000105737 GRIK5 / Q16478 / glutamate ionotropic receptor kainate type subunit 5  / complex
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex
 ENSG00000171189 GRIK1 / P39086 / glutamate ionotropic receptor kainate type subunit 1  / reaction / complex
 ENSG00000164418 GRIK2 / Q13002 / glutamate ionotropic receptor kainate type subunit 2  / complex / reaction
 ENSG00000149403 GRIK4 / Q16099 / glutamate ionotropic receptor kainate type subunit 4  / complex
 ENSG00000163873 GRIK3 / Q13003 / glutamate ionotropic receptor kainate type subunit 3  / complex






 

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