GRIA2 (glutamate ionotropic receptor AMPA type subunit 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2891
Gene name Glutamate ionotropic receptor AMPA type subunit 2
Gene symbol GRIA2
Synonyms (NCBI Gene)
GLUR2GLURBGluA2GluR-K2HBGR2NEDLIBgluR-2gluR-B
Chromosome 4
Chromosome location 4q32.1
Summary Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to al
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1579377564 G>T Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
18
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
MIRT003035 hsa-miR-181b-5p Luciferase assay/RT-PCR 18184693
MIRT003035 hsa-miR-181b-5p Luciferase reporter assay 18184693
MIRT003035 hsa-miR-181b-5p Reporter assay;Other 18184693
MIRT437343 hsa-miR-124-3p Luciferase reporter assayqRT-PCR 23595422
MIRT437343 hsa-miR-124-3p Luciferase reporter assay 27013590
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (47)
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding ISS
GO:0001540 Function Amyloid-beta binding NAS 20032460
GO:0004970 Function Glutamate-gated receptor activity IDA 20614889
GO:0004970 Function Glutamate-gated receptor activity IEA
GO:0004971 Function AMPA glutamate receptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138247 4572 ENSG00000120251
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42262
Protein name Glutamate receptor 2 (GluR-2) (AMPA-selective glutamate receptor 2) (GluR-B) (GluR-K2) (Glutamate receptor ionotropic, AMPA 2)
Protein function Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (PubMed:2061
PDB 2WJW , 2WJX , 2XHD , 3R7X , 3RN8 , 3RNN , 3UA8 , 5H8S , 5YBF , 5YBG , 5ZG0 , 5ZG1 , 5ZG2 , 5ZG3 , 7F3O , 8I0B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01094 ANF_receptor 42 → 382 Receptor family ligand binding region Family
PF10613 Lig_chan-Glu_bd 414 → 529 Ligated ion channel L-glutamate- and glycine-binding site Domain
PF00060 Lig_chan 543 → 824 Ligand-gated ion channel Family
Sequence 
MQKIMHISVLLSPVLWGLIFGVSSNSIQIGGLFPRGADQEYSAFRVGMVQFSTSEFRLTP
HIDNLEVANSFAVTNAFCSQFSRGVYAIFGFYDKKSVNTITSFCGTLHVSFITPSFPTDG
THPFVIQMRPDLKGALLSLIEYYQWDKFAYLYDSDRGLSTLQAVLDSAAEKKWQVTAINV
GNINNDKKDEMYRSLFQDLELKKERRVILDCERDKVNDIVDQVITIGKHVKGYHYIIANL
GFTDGDLLKIQFGGANVSGFQIVDYDDSLVSKFIERWSTLEEKEYPGAHTTTIKYTSALT
YDAVQVMTEAFRNLRKQRIEISRRGNAGDCLANPAVPWGQGVEIERALKQVQVEGLSGNI
KFDQNGKRINYTINIMELKTNGPRKIGYWSEVDKMVVTLTELPSGNDTSGLENKTVVVTT
ILESPYVMMKKNHEMLEGNERYEGYCVDLAAEIAKHCGFKYKLTIVGDGKYGARDADTKI
WNGMVGELVYGKADIAIAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFLD
PLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHTEEFEDGRETQSSESTNEFGIFNSLWF
SLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDL
SKQTEIAYGTLDSGSTKEFFRRSKIAVFDKMWTYMRSAEPSVFVRTTAEGVARVRKSKGK
YAYLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGIATPKGSSLRNAVNLAVLKLNEQGLL
DKLKNKWWYDKGECGSGGGDSKEKTSALSLSNVAGVFYILVGGLGLAMLVALIEFCYKSR
AEAKRMKVAKNAQNINPSSSQNSQNFATYKEGYNVYGIESVKI
Sequence length 883
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Dopaminergic synapse
Long-term depression
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Nicotine addiction 		  Activation of AMPA receptors
Trafficking of GluR2-containing AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental delay Likely pathogenic rs2127000716, rs538981621 RCV002274340
RCV002274341
Neurodevelopmental disorder with language impairment and behavioral abnormalities Likely pathogenic; Pathogenic rs143505003, rs2126940512, rs761753966, rs2126951773, rs2127000861, rs2127000875, rs2127004544, rs2127004559, rs2126866545, rs2126951829, rs2126940142, rs2126951757, rs2126885680, rs1734386587, rs2530754055
View all (14 more)		 RCV001374379
RCV001374382
RCV001374384
RCV001374383
RCV001374380
RCV001374381
RCV001374387
RCV001374386
RCV001527617
RCV001775370
RCV002226627
RCV002250028
RCV002272682
RCV003151887
RCV002287603
RCV002468717
RCV003226598
RCV003226599
RCV003322660
RCV003335831
RCV003335900
RCV003482192
RCV003594707
RCV003761184
RCV001195084
RCV001195081
RCV001195082
RCV001195083
RCV001195085
RCV001254076
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs79163474 RCV005911563
EBV-positive nodal T- and NK-cell lymphoma Uncertain significance rs761500896 RCV004560298
GRIA2-related disorder Uncertain significance; Likely benign rs2530620663, rs1734564383, rs1736569316, rs1397057343, rs199950609, rs142538282 RCV003391625
RCV003419055
RCV003408487
RCV003422455
RCV003959688
RCV003971927
Lung cancer Benign rs79163474 RCV005911562
Show/Hide Text Mining Associations (44)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 22417861
Alzheimer Disease Stimulate 19295912
Alzheimer Disease Associate 33401309, 34269494
Amyotrophic Lateral Sclerosis Associate 12694394
Autism Spectrum Disorder Associate 31300657, 35134694, 36161652, 36329391
Autistic Disorder Associate 36329391
Bipolar Disorder Associate 19448189
Brain Injuries Associate 16680761
Craniopharyngioma Inhibit 36123899
Developmental Disabilities Associate 31300657, 36161652