GRIA4 (glutamate ionotropic receptor AMPA type subunit 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2893
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate ionotropic receptor AMPA type subunit 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRIA4
Synonyms (NCBI Gene) Gene synonyms aliases
GLUR4, GLUR4C, GLURD, GluA4, GluA4-ATD, NEDSGA
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arra
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs765556214 G>A,C Pathogenic, likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1555050158 A>T Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1555050165 A>G Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1555050171 C>G Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1555050174 C>T Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
miRTarBase ID miRNA Experiments Reference
MIRT042105 hsa-miR-484 CLASH 23622248
MIRT1034191 hsa-miR-3120-3p CLIP-seq
MIRT1034192 hsa-miR-3591-3p CLIP-seq
MIRT1034193 hsa-miR-4279 CLIP-seq
MIRT1034194 hsa-miR-545 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(41)
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding NAS 26719327
GO:0004970 Function Glutamate-gated receptor activity IEA
GO:0004970 Function Glutamate-gated receptor activity ISS
GO:0004971 Function AMPA glutamate receptor activity IBA
GO:0004971 Function AMPA glutamate receptor activity IDA 21172611
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138246 4574 ENSG00000152578
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P48058
Protein name Glutamate receptor 4 (GluR-4) (GluR4) (AMPA-selective glutamate receptor 4) (GluR-D) (Glutamate receptor ionotropic, AMPA 4)
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 (By similari
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01094 ANF_receptor 39 → 383 Receptor family ligand binding region Family
PF10613 Lig_chan-Glu_bd 415 → 530 Ligated ion channel L-glutamate- and glycine-binding site Domain
PF00060 Lig_chan 544 → 825 Ligand-gated ion channel Family
Sequence 
MRIISRQIVLLFSGFWGLAMGAFPSSVQIGGLFIRNTDQEYTAFRLAIFLHNTSPNASEA
PFNLVPHVDNIETANSFAVTNAFCSQYSRGVFAIFGLYDKRSVHTLTSFCSALHISLITP
SFPTEGESQFVLQLRPSLRGALLSLLDHYEWNCFVFLYDTDRGYSILQAIMEKAGQNGWH
VSAICVENFNDVSYRQLLEELDRRQEKKFVIDCEIERLQNILEQIVSVGKHVKGYHYIIA
NLGFKDISLERFIHGGANVTGFQLVDFNTPMVIKLMDRWKKLDQREYPGSETPPKYTSAL
TYDGVLVMAETFRSLRRQKIDISRRGNAGDCLANPAAPWGQGIDMERTLKQVRIQGLTGN
VQFDHYGRRVNYTMDVFELKSTGPRKVGYWNDMDKLVLIQDVPTLGNDTAAIENRTVVVT
TIMESPYVMYKKNHEMFEGNDKYEGYCVDLASEIAKHIGIKYKIAIVPDGKYGARDADTK
IWNGMVGELVYGKAEIAIAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFL
DPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHTEEPEDGKEGPSDQPPNEFGIFNSLW
FSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAED
LAKQTEIAYGTLDSGSTKEFFRRSKIAVYEKMWTYMRSAEPSVFTRTTAEGVARVRKSKG
KFAFLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGVATPKGSSLRTPVNLAVLKLSEAGV
LDKLKNKWWYDKGECGPKDSGSKDKTSALSLSNVAGVFYILVGGLGLAMLVALIEFCYKS
RAEAKRMKLTFSEAIRNKARLSITGSVGENGRVLTPDCPKAVHTGTAIRQSSGLAVIASD
LP
Sequence length 902
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
Retrograde endocannabinoid signaling
Glutamatergic synapse
Dopaminergic synapse
Huntington disease
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Nicotine addiction 		  Activation of AMPA receptors
Trafficking of AMPA receptors
Trafficking of GluR2-containing AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
Synaptic adhesion-like molecules
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214 N/A
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities neurodevelopmental disorder with or without seizures and gait abnormalities rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214 N/A
Obesity obesity rs1591461970 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioma Glioma N/A N/A GWAS
Myopia Myopia N/A N/A GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 29220673
Autism Spectrum Disorder Associate 36161652
Breast Neoplasms Associate 38003293
Carcinoma Renal Cell Associate 24962026
Central Nervous System Neoplasms Associate 20061814
Colorectal Neoplasms Associate 28982739, 30987631, 32599859, 34719006, 39385172
Dementia Inhibit 29324989
Depressive Disorder Major Associate 32398672
Developmental Disabilities Associate 29220673, 36161652
Fibromyalgia Associate 21905019