Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2892
Gene name	Glutamate ionotropic receptor AMPA type subunit 3
Gene symbol	GRIA3
Synonyms (NCBI Gene)	GLUR-CGLUR-K3GLUR3GLURCGluA3MRX94MRXSWiGluR3
Chromosome	X
Chromosome location	Xq25
Summary	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

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852350	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137852351	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137852352	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs139990565	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant
rs146022384	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777361	G>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs780680047	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs1057521721	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057521729	G>A	Likely-pathogenic, not-provided	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1135401788	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1556317780	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1556317797	GCCTCAGAA>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant

134

Show/Hide all (134)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437344	hsa-miR-124-3p	Luciferase reporter assayqRT-PCR	23595422
MIRT437344	hsa-miR-124-3p	Luciferase reporter assay	27013590
MIRT755844	hsa-miR-212-5p	Luciferase reporter assayWestern blottingqRT-PCR	34652536
MIRT1034177	hsa-miR-1208	CLIP-seq
MIRT1034178	hsa-miR-129-5p	CLIP-seq
MIRT1034179	hsa-miR-203	CLIP-seq
MIRT1034180	hsa-miR-214	CLIP-seq
MIRT1034181	hsa-miR-34b	CLIP-seq
MIRT1034182	hsa-miR-3619-5p	CLIP-seq
MIRT1034183	hsa-miR-3663-5p	CLIP-seq
MIRT1034184	hsa-miR-375	CLIP-seq
MIRT1034185	hsa-miR-3919	CLIP-seq
MIRT1034186	hsa-miR-4291	CLIP-seq
MIRT1034187	hsa-miR-498	CLIP-seq
MIRT1034188	hsa-miR-539	CLIP-seq
MIRT1034189	hsa-miR-761	CLIP-seq
MIRT1034190	hsa-miR-922	CLIP-seq
MIRT2239130	hsa-miR-3148	CLIP-seq
MIRT2239131	hsa-miR-451b	CLIP-seq
MIRT2239132	hsa-miR-548c-3p	CLIP-seq
MIRT2239133	hsa-miR-2467-5p	CLIP-seq
MIRT2239134	hsa-miR-3188	CLIP-seq
MIRT2239135	hsa-miR-3975	CLIP-seq
MIRT2239136	hsa-miR-485-5p	CLIP-seq
MIRT2450759	hsa-miR-135a	CLIP-seq
MIRT2450760	hsa-miR-135b	CLIP-seq
MIRT2450761	hsa-miR-219-2-3p	CLIP-seq
MIRT2450762	hsa-miR-2964a-3p	CLIP-seq
MIRT2450763	hsa-miR-3119	CLIP-seq
MIRT2450764	hsa-miR-3140-3p	CLIP-seq
MIRT2450765	hsa-miR-4452	CLIP-seq
MIRT2450766	hsa-miR-653	CLIP-seq
MIRT2543045	hsa-miR-1	CLIP-seq
MIRT2543046	hsa-miR-1238	CLIP-seq
MIRT2543047	hsa-miR-127-5p	CLIP-seq
MIRT2543048	hsa-miR-1299	CLIP-seq
MIRT2543049	hsa-miR-1306	CLIP-seq
MIRT2543050	hsa-miR-146a	CLIP-seq
MIRT2543051	hsa-miR-146b-5p	CLIP-seq
MIRT2543052	hsa-miR-149	CLIP-seq
MIRT2543053	hsa-miR-206	CLIP-seq
MIRT2543054	hsa-miR-24	CLIP-seq
MIRT2543055	hsa-miR-3064-5p	CLIP-seq
MIRT2543056	hsa-miR-3126-3p	CLIP-seq
MIRT2543057	hsa-miR-3155	CLIP-seq
MIRT2543058	hsa-miR-3155b	CLIP-seq
MIRT2543059	hsa-miR-3177-5p	CLIP-seq
MIRT2543060	hsa-miR-3183	CLIP-seq
MIRT2543061	hsa-miR-3189-3p	CLIP-seq
MIRT2543062	hsa-miR-3605-3p	CLIP-seq
MIRT2543063	hsa-miR-362-5p	CLIP-seq
MIRT2543064	hsa-miR-3664-3p	CLIP-seq
MIRT2543065	hsa-miR-3673	CLIP-seq
MIRT2543066	hsa-miR-370	CLIP-seq
MIRT2543067	hsa-miR-3910	CLIP-seq
MIRT1034185	hsa-miR-3919	CLIP-seq
MIRT2543068	hsa-miR-3978	CLIP-seq
MIRT2543069	hsa-miR-4258	CLIP-seq
MIRT2543070	hsa-miR-4261	CLIP-seq
MIRT2543071	hsa-miR-4284	CLIP-seq
MIRT2543072	hsa-miR-4318	CLIP-seq
MIRT2543073	hsa-miR-4421	CLIP-seq
MIRT2543074	hsa-miR-4428	CLIP-seq
MIRT2543075	hsa-miR-4448	CLIP-seq
MIRT2543076	hsa-miR-4449	CLIP-seq
MIRT2543077	hsa-miR-4524	CLIP-seq
MIRT2543078	hsa-miR-4527	CLIP-seq
MIRT2543079	hsa-miR-4539	CLIP-seq
MIRT2543080	hsa-miR-4635	CLIP-seq
MIRT2543081	hsa-miR-4645-5p	CLIP-seq
MIRT2543082	hsa-miR-4661-3p	CLIP-seq
MIRT2543083	hsa-miR-4673	CLIP-seq
MIRT2543084	hsa-miR-4691-3p	CLIP-seq
MIRT2543085	hsa-miR-4693-3p	CLIP-seq
MIRT2543086	hsa-miR-4723-3p	CLIP-seq
MIRT2543087	hsa-miR-4782-5p	CLIP-seq
MIRT2543088	hsa-miR-4794	CLIP-seq
MIRT2543089	hsa-miR-484	CLIP-seq
MIRT2543090	hsa-miR-488	CLIP-seq
MIRT2543091	hsa-miR-494	CLIP-seq
MIRT2543092	hsa-miR-500b	CLIP-seq
MIRT2543093	hsa-miR-516b	CLIP-seq
MIRT2543094	hsa-miR-548an	CLIP-seq
MIRT2543095	hsa-miR-561	CLIP-seq
MIRT2543096	hsa-miR-589	CLIP-seq
MIRT2543097	hsa-miR-613	CLIP-seq
MIRT2543098	hsa-miR-626	CLIP-seq
MIRT2543099	hsa-miR-875-3p	CLIP-seq
MIRT2543100	hsa-miR-891a	CLIP-seq
MIRT2543045	hsa-miR-1	CLIP-seq
MIRT2543046	hsa-miR-1238	CLIP-seq
MIRT2543047	hsa-miR-127-5p	CLIP-seq
MIRT2682081	hsa-miR-128	CLIP-seq
MIRT2543050	hsa-miR-146a	CLIP-seq
MIRT2543051	hsa-miR-146b-5p	CLIP-seq
MIRT2543052	hsa-miR-149	CLIP-seq
MIRT2543053	hsa-miR-206	CLIP-seq
MIRT2543054	hsa-miR-24	CLIP-seq
MIRT2543055	hsa-miR-3064-5p	CLIP-seq
MIRT2543056	hsa-miR-3126-3p	CLIP-seq
MIRT2543059	hsa-miR-3177-5p	CLIP-seq
MIRT2543060	hsa-miR-3183	CLIP-seq
MIRT2543062	hsa-miR-3605-3p	CLIP-seq
MIRT2543063	hsa-miR-362-5p	CLIP-seq
MIRT2543064	hsa-miR-3664-3p	CLIP-seq
MIRT2543065	hsa-miR-3673	CLIP-seq
MIRT2543066	hsa-miR-370	CLIP-seq
MIRT2543067	hsa-miR-3910	CLIP-seq
MIRT1034185	hsa-miR-3919	CLIP-seq
MIRT2543069	hsa-miR-4258	CLIP-seq
MIRT2543071	hsa-miR-4284	CLIP-seq
MIRT2543072	hsa-miR-4318	CLIP-seq
MIRT2543073	hsa-miR-4421	CLIP-seq
MIRT2543074	hsa-miR-4428	CLIP-seq
MIRT2543076	hsa-miR-4449	CLIP-seq
MIRT2543077	hsa-miR-4524	CLIP-seq
MIRT2543078	hsa-miR-4527	CLIP-seq
MIRT2543079	hsa-miR-4539	CLIP-seq
MIRT2543080	hsa-miR-4635	CLIP-seq
MIRT2543082	hsa-miR-4661-3p	CLIP-seq
MIRT2543084	hsa-miR-4691-3p	CLIP-seq
MIRT2543085	hsa-miR-4693-3p	CLIP-seq
MIRT2682082	hsa-miR-4717-3p	CLIP-seq
MIRT2543086	hsa-miR-4723-3p	CLIP-seq
MIRT2543088	hsa-miR-4794	CLIP-seq
MIRT2543090	hsa-miR-488	CLIP-seq
MIRT2543092	hsa-miR-500b	CLIP-seq
MIRT2543094	hsa-miR-548an	CLIP-seq
MIRT2543095	hsa-miR-561	CLIP-seq
MIRT2543096	hsa-miR-589	CLIP-seq
MIRT2682083	hsa-miR-610	CLIP-seq
MIRT2543097	hsa-miR-613	CLIP-seq
MIRT2543098	hsa-miR-626	CLIP-seq
MIRT2543100	hsa-miR-891a	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0004970	Function	Glutamate-gated receptor activity	IDA	17989220
GO:0004970	Function	Glutamate-gated receptor activity	IEA
GO:0004971	Function	AMPA glutamate receptor activity	IBA
GO:0004971	Function	AMPA glutamate receptor activity	IDA	21172611
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17989220
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1709304
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	1709304
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	ISS
GO:0030666	Component	Endocytic vesicle membrane	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0032281	Component	AMPA glutamate receptor complex	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0051289	Process	Protein homotetramerization	IDA	17989220
GO:0051290	Process	Protein heterotetramerization	IDA	17989220
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060291	Process	Long-term synaptic potentiation	ISS
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	12670305
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	12670305
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	12670305
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
305915	4573	ENSG00000125675

P42263

Protein name

Glutamate receptor 3 (GluR-3) (AMPA-selective glutamate receptor 3) (GluR-C) (GluR-K3) (Glutamate receptor ionotropic, AMPA 3)

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	46 → 392	Receptor family ligand binding region	Family
PF10613	Lig_chan-Glu_bd	423 → 538	Ligated ion channel L-glutamate- and glycine-binding site	Domain
PF00060	Lig_chan	552 → 835	Ligand-gated ion channel	Family

Sequence

MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTVQEHSAFRFAVQLYNT
NQNTTEKPFHLNYHVDHLDSSNSFSVTNAFCSQFSRGVYAIFGFYDQMSMNTLTSFCGAL
HTSFVTPSFPTDADVQFVIQMRPALKGAILSLLGHYKWEKFVYLYDTERGFSILQAIMEA
AVQNNWQVTARSVGNIKDVQEFRRIIEEMDRRQEKRYLIDCEVERINTILEQVVILGKHS
RGYHYMLANLGFTDILLERVMHGGANITGFQIVNNENPMVQQFIQRWVRLDEREFPEAKN
APLKYTSALTHDAILVIAEAFRYLRRQRVDVSRRGSAGDCLANPAVPWSQGIDIERALKM
VQVQGMTGNIQFDTYGRRTNYTIDVYEMKVSGSRKAGYWNEYERFVPFSDQQISNDSASS
ENRTIVVTTILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKYKLSIVGDGKY
GARDPETKIWNGMVGELVYGRADIAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKS
KPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHLEDNNEEPRDPQSPPDPP
NEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVER
MVSPIESAEDLAKQTEIAYGTLDSGSTKEFFRRSKIAVYEKMWSYMKSAEPSVFTKTTAD
GVARVRKSKGKFAFLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGVATPKGSALRNAVNL
AVLKLNEQGLLDKLKNKWWYDKGECGSGGGDSKDKTSALSLSNVAGVFYILVGGLGLAMM
VALIEFCYKSRAESKRMKLTKNTQNFKPAPATNTQNYATYREGYNVYGTESVKI

Sequence length

894

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment Retrograde endocannabinoid signaling Glutamatergic synapse Dopaminergic synapse Long-term depression Huntington disease Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases Amphetamine addiction Nicotine addiction Transcriptional misregulation in cancer		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

114

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Global developmental delay	Likely pathogenic	rs2521237636	RCV001255420
GRIA3-related complex neurodevelopmental disorder	Pathogenic	rs2147401079	RCV001728148
GRIA3-related disorder	Likely pathogenic	rs2521333836, rs1057521729	RCV004531922 RCV000509420
Intellectual disability	Likely pathogenic; Pathogenic	rs587777361	RCV001260622
Seizure	Likely pathogenic; Pathogenic	rs587777361	RCV001849494
Syndromic X-linked intellectual disability 94	Pathogenic; Likely pathogenic	rs2147401116, rs587777361, rs140908982, rs2147383715, rs2147384890, rs1193723455, rs139990565, rs1057521721, rs2521237702, rs137852350, rs137852351, rs137852352, rs2520692544, rs2521237559, rs2521333750 View all (3 more)	RCV001814627 RCV000115024 RCV001849243 RCV002077374 RCV002250029 RCV002471360 RCV003152691 RCV003226591 RCV003226592 RCV000011069 RCV000011070 RCV000011071 RCV003236651 RCV003335832 RCV003883347 RCV004017190 RCV004556959 RCV000496189 RCV006261756
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs139990565	RCV005889955

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs139058646	RCV005888097
Disrupted sleep-wake cycle with developmental delay and learning difficulty	Conflicting classifications of pathogenicity	rs1057521721	RCV000579220
Epileptic encephalopathy	Conflicting classifications of pathogenicity	rs780680047	RCV001004014
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs151086692	RCV000721085
Malignant lymphoma, large B-cell, diffuse	Benign	rs3747322	RCV005915902
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity	rs2045826576	RCV001264709
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs1569442989	RCV001375008
Nonpapillary renal cell carcinoma	Uncertain significance; Likely benign	rs780335659, rs2521173253	RCV005930260 RCV005931300
Ovarian serous cystadenocarcinoma	Benign	rs139058646	RCV005888096
See cases	Uncertain significance	rs772140857	RCV002287536

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	27453991
Autism Spectrum Disorder	Associate	32369665, 32977175, 36161652
Brain Diseases	Associate	26648591
Cardiovascular Diseases	Associate	32977175
CDKL5 deficiency disorder	Associate	32977175
Cerebellar Diseases	Associate	34731330
Cerebellar Hypoplasia	Associate	34731330
Chemical and Drug Induced Liver Injury	Associate	34652536
Chorea	Associate	32369665
Cognition Disorders	Associate	17989220, 29324989
Congenital Abnormalities	Associate	32977175
Death	Associate	29324989
Depressive Disorder	Associate	20579352
Developmental Disabilities	Associate	32369665, 36161652, 38038360
Disease	Associate	33818783
Epilepsies Myoclonic	Associate	32977175, 38038360
Epilepsy	Associate	32369665, 32977175, 33818783, 38038360
Epileptic Encephalopathy Early Infantile 3	Associate	38038360
Frontotemporal Dementia	Associate	35046935
Hyperekplexia	Associate	32369665
Infantile Epileptic Dyskinetic Encephalopathy	Associate	38038360
Intellectual Disability	Associate	24721225, 32369665, 32977175, 34731330, 36161652
Intraoperative Awareness	Associate	38038360
Language Development Disorders	Associate	38038360
Mental Retardation X Linked	Associate	17989220
Migraine Disorders	Associate	20579352, 26800698
Mitral Valve Insufficiency	Associate	17989220
Motor Disorders	Associate	38038360
Movement Disorders	Associate	32369665
Muscle Hypotonia	Associate	19295509, 32369665, 32977175
Myoclonus	Associate	32369665, 32977175, 38038360
Neurologic Manifestations	Associate	37921875
Non alcoholic Fatty Liver Disease	Associate	34652536
Nonsyndromic Holoprosencephaly	Associate	32977175
Pathological Conditions Anatomical	Associate	33818783
Reflex Abnormal	Associate	32977175
Retrograde Degeneration	Associate	29324989
Schizophrenia	Associate	35396579
Seizures	Associate	34731330, 36161652, 38038360
Sleep Wake Disorders	Associate	32369665
Squamous Cell Carcinoma of Head and Neck	Associate	35488327
Status Epilepticus	Associate	34731330
Stiff Person Syndrome	Associate	32369665
Teratoma	Associate	20930449

GRIA3 (glutamate ionotropic receptor AMPA type subunit 3)