AutismKB 2.0

Annotation Detail for GRIK1


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Basic Information Top
Gene Symbol:GRIK1 ( EAA3,EEA3,GLR5,GLUR5 )
Gene Full Name: glutamate receptor, ionotropic, kainate 1
Band: 21q21.3
Quick LinksEntrez ID:2897; OMIM: 138245; Uniprot ID:GRIK1_HUMAN; ENSEMBL ID: ENSG00000171189; HGNC ID: 4579
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04080Neuroactive ligand-receptor interaction
Pathway IDPathway Name
Synaptic Transmission
No data
Pathway IDPathway Name
P00039Metabotropic glutamate receptor group III pathway
P00037Ionotropic glutamate receptor pathway
P00029Huntington disease
P00041Metabotropic glutamate receptor group I pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
Huntington Disease
CANCER
epilepsy
PSYCH
breast cancer
NEUROLOGICAL
hyperactive-impulsive symptoms
Desease Name
Hyperactive-impulsive symptoms
Response to statin therapy
Breast cancer
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C084273 5-nitro-6,7,8,9-tetrahydrobenzo(G)indole-2,3-dione-3-oxime 5-nitro-6,7,8,9-tetrahydrobenzo(G)indole-2,3-dione-3-oxime binds to and results in decreased activity of GRIK1 proteinaffects binding|decreases activity 19596362
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GRIK1 mRNAaffects expression 16483693
D020185 Benzoic Acids Benzoic Acids analog binds to and results in decreased activity of GRIK1 proteinaffects binding|decreases activity 14667236
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of GRIK1 geneincreases mutagenesis 16495775
C025299 polyphenols polyphenols results in decreased expression of GRIK1 mRNAdecreases expression 16293270
C002979 selenomethylselenocysteine selenomethylselenocysteine results in increased expression of GRIK1 mRNAincreases expression 18514395
D018038 Sodium Selenite Sodium Selenite results in increased expression of GRIK1 mRNAincreases expression 18514395
C052342 topiramate GRIK1 gene SNP affects the susceptibility to topiramateaffects response to substance 19331489
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000236 Adenoma Ethylnitrosourea 3.846695378
MESH:D000437 Alcoholism topiramate 5.2117925516 19331489 18552399
MESH:D001927 Brain Diseases Ethylnitrosourea 5.1114991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.5216357521 15144691 18412241 16436596 16651633
MESH:D001943 Breast Neoplasms selenomethylselenocysteine 3.7718855134
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 3.8816003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.3617160924
MESH:D002659 Child Development Disorders, Pervasive topiramate 4.1715650499
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0615894690
MESH:D003110 Colonic Neoplasms polyphenols 2.7016293270
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9916285004
MESH:D003924 Diabetes Mellitus, Type 2 topiramate 3.7416979414
MESH:D056486 Drug-Induced Liver Injury polyphenols 4.4519370779
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.4515131321
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.3618357618
MESH:D004827 Epilepsy topiramate 4.4319148780
MESH:D004833 Epilepsy, Temporal Lobe topiramate 6.6516499746
MESH:D005909 Glioblastoma Ethylnitrosourea 3.9816436596
MESH:D005910 Glioma Ethylnitrosourea 3.5716651633 16357521 18412241
MESH:D007249 Inflammation polyphenols 3.1716366677
MESH:D007333 Insulin Resistance Sodium Selenite 3.4214714311
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.1317379185
MESH:D008107 Liver Diseases polyphenols 2.8316698588
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.6317703301 16271038 6695378 16019985
MESH:D008223 Lymphoma Ethylnitrosourea 4.1115790496
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.3214737004
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.3515375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 7.3910838139 10767621 18041768
MESH:D008325 Mammary Neoplasms, Experimental selenomethylselenocysteine 7.3915318939
MESH:D008579 Meningioma Ethylnitrosourea 6.3617943659
MESH:D008881 Migraine Disorders topiramate 4.7416942474 18803445 18759728 18765137
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.7116707424
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.7516003739 17160924 16651423
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.3617160924
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3518760546
MESH:D012640 Seizures topiramate 4.2816499746
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.6317997062
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.5015790496
Pathway ID Pathway Name
KEGG:04724 Glutamatergic synapse
KEGG:04080 Neuroactive ligand-receptor interaction
REACT:13685 Synaptic Transmission
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28973
    • No data
    Releated disease ID Related disease Name
    PA443309Alcoholism
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00142 - L-Glutamic Acid Dietary supplement;Micronutrient;Non-Essential Amino Acids
    DB00273 antagonist Topiramate Anticonvulsants;Anti-Obesity Agents;Neuroprotective Agents
    No data
    No data
    No data

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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