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Aliases for GRIA3 Gene

Aliases for GRIA3 Gene

  • Glutamate Ionotropic Receptor AMPA Type Subunit 3 2 3 5
  • Glutamate Receptor, Ionotrophic, AMPA 3 2 3
  • AMPA-Selective Glutamate Receptor 3 3 4
  • GLUR-K3 3 4
  • GLUR-C 3 4
  • GluR-3 3 4
  • GLUR3 3 4
  • GLURC 3 4
  • GluA3 3 4
  • Glutamate Receptor, Ionotropic, AMPA 3 3
  • Glutamate Receptor Ionotropic, AMPA 3 4
  • Glutamate Receptor Subunit 3 3
  • Glutamate Receptor 3 3
  • Glutamate Receptor C 3
  • DJ1171F9.1 3
  • MRX94 3

External Ids for GRIA3 Gene

Previous HGNC Symbols for GRIA3 Gene

  • GLUR3

Previous GeneCards Identifiers for GRIA3 Gene

  • GC0XP117035
  • GC0XP119211
  • GC0XP120270
  • GC0XP121015
  • GC0XP122044
  • GC0XP122145
  • GC0XP122318
  • GC0XP111704

Summaries for GRIA3 Gene

Entrez Gene Summary for GRIA3 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, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]

GeneCards Summary for GRIA3 Gene

GRIA3 (Glutamate Ionotropic Receptor AMPA Type Subunit 3) is a Protein Coding gene. Diseases associated with GRIA3 include Mental Retardation, X-Linked, Syndromic, Wu Type and Rasmussen Encephalitis. Among its related pathways are Circadian entrainment and Post NMDA receptor activation events. Gene Ontology (GO) annotations related to this gene include ionotropic glutamate receptor activity and AMPA glutamate receptor activity. An important paralog of this gene is GRIA4.

UniProtKB/Swiss-Prot for GRIA3 Gene

  • Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate.

Tocris Summary for GRIA3 Gene

  • AMPA receptors are members of the ionotropic class of glutamate receptors, which also includes NMDA and kainate receptors. AMPA receptors mediate fast excitatory synaptic transmission and play a role in hippocampal synaptic long-term potentiation and depression.

Gene Wiki entry for GRIA3 Gene

Additional gene information for GRIA3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRIA3 Gene

Genomics for GRIA3 Gene

GeneHancer (GH) Regulatory Elements for GRIA3 Gene

Promoters and enhancers for GRIA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI123183 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.8 +0.3 259 2.4 ZBTB10 MXI1 NRF1 RAD21 POLR2A HNF4A PRDM1 ZZZ3 CHD2 EZH2 GRIA3 FERP1 THOC2 ENSG00000179101
GH0XI123185 Enhancer 0.2 Ensembl 550.8 +1.8 1790 0.4 GRIA3 ENSG00000179101
GH0XI123210 Enhancer 0.3 FANTOM5 1.8 +26.0 26015 0 GRIA3 ENSG00000179101
GH0XI123215 Enhancer 0.8 ENCODE 0.3 +32.7 32650 3 HDAC1 PKNOX1 TCF12 EGR1 RCOR1 CREM CEBPB ZEB2 ZNF592 NFIC GRIA3 ENSG00000179101
GH0XI123338 Enhancer 0.7 ENCODE 0.1 +155.7 155736 2.2 ZNF687 RXRA NR2F1 BACH1 JUNB EBF1 BATF NR2F2 YY1 FOXA1 GRIA3 ENSG00000179101
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GRIA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GRIA3 gene promoter:

Genomic Locations for GRIA3 Gene

Genomic Locations for GRIA3 Gene
chrX:123,184,153-123,490,915
(GRCh38/hg38)
Size:
306,763 bases
Orientation:
Plus strand
chrX:122,318,006-122,624,766
(GRCh37/hg19)

Genomic View for GRIA3 Gene

Genes around GRIA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIA3 Gene

Proteins for GRIA3 Gene

  • Protein details for GRIA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42263-GRIA3_HUMAN
    Recommended name:
    Glutamate receptor 3
    Protein Accession:
    P42263
    Secondary Accessions:
    • D3DTF1
    • Q4VXD5
    • Q4VXD6
    • Q9HDA0
    • Q9HDA1
    • Q9HDA2
    • Q9P0H1

    Protein attributes for GRIA3 Gene

    Size:
    894 amino acids
    Molecular mass:
    101157 Da
    Quaternary structure:
    • Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers. Interacts with PRKCABP, GRIP1 and GRIP2 (By similarity). Found in a complex with GRIA1, GRIA2, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with CACNG5 (By similarity).
    Miscellaneous:
    • The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds AMPA (quisqualate) > glutamate > kainate.

    Alternative splice isoforms for GRIA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRIA3 Gene

Post-translational modifications for GRIA3 Gene

  • Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-621 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-847 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity).
  • Glycosylation at posLast=6363, posLast=266266, isoforms=2380, posLast=415415, and isoforms=2422
  • Modification sites at PhosphoSitePlus

Other Protein References for GRIA3 Gene

No data available for DME Specific Peptides for GRIA3 Gene

Domains & Families for GRIA3 Gene

Gene Families for GRIA3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

P42263

UniProtKB/Swiss-Prot:

GRIA3_HUMAN :
  • The M4 transmembrane segment mediates tetramerization and is required for cell surface expression.
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA3 subfamily.
Domain:
  • The M4 transmembrane segment mediates tetramerization and is required for cell surface expression.
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIA3 subfamily.
genes like me logo Genes that share domains with GRIA3: view

Function for GRIA3 Gene

Molecular function for GRIA3 Gene

GENATLAS Biochemistry:
glutamate receptor,subunit 3,ionotropic,AMPA (amino-3-hydroxy 5 methyl-isoxazole-propionic) class,with flip and flop isoforms,mediating the fast component of excitatory post synaptic currents in the central nervous system,interacting with and signaling through the protein-kinase LYN
UniProtKB/Swiss-Prot Function:
Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of glutamate.

Phenotypes From GWAS Catalog for GRIA3 Gene

Gene Ontology (GO) - Molecular Function for GRIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding ISS --
GO:0004872 receptor activity IEA --
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0004971 AMPA glutamate receptor activity IDA 21172611
GO:0005216 ion channel activity IEA --
genes like me logo Genes that share ontologies with GRIA3: view
genes like me logo Genes that share phenotypes with GRIA3: view

Human Phenotype Ontology for GRIA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRIA3 Gene

MGI Knock Outs for GRIA3:

Animal Model Products

  • Taconic Biosciences Mouse Models for GRIA3

miRNA for GRIA3 Gene

miRTarBase miRNAs that target GRIA3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRIA3 Gene

Localization for GRIA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIA3 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Note=Interaction with CNIH2 and CNIH3 promotes cell surface expression. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRIA3 gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GRIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0030666 endocytic vesicle membrane TAS --
genes like me logo Genes that share ontologies with GRIA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRIA3 Gene

Pathways & Interactions for GRIA3 Gene

genes like me logo Genes that share pathways with GRIA3: view

Interacting Proteins for GRIA3 Gene

Selected Interacting proteins: P42263-GRIA3_HUMAN for GRIA3 Gene via IID

Gene Ontology (GO) - Biological Process for GRIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS,IEA 1709304
GO:0006811 ion transport IEA --
GO:0007215 glutamate receptor signaling pathway TAS 1709304
GO:0034220 ion transmembrane transport IEA --
GO:0035235 ionotropic glutamate receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with GRIA3: view

No data available for SIGNOR curated interactions for GRIA3 Gene

Drugs & Compounds for GRIA3 Gene

(96) Drugs for GRIA3 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclothiazide Approved Pharma Positive, Allosteric regulator, inhibitor 0
Ethanol Approved Pharma Target 2326
Perampanel Approved Pharma AMPA-type glutamate receptor antagonist 0
Piracetam Approved, Investigational Pharma Positive, Allosteric regulator 176
Lithium Approved Pharma Target, potentiator 0

(4) Additional Compounds for GRIA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for GRIA3 Gene

Compound Action Cas Number
(R)-AMPA Inactive isomer of (RS)-AMPA (Cat. No. 0169) 83654-13-1
(RS)-AMPA Selective AMPA agonist 74341-63-2
L-Quisqualic acid AMPA/group I mGlu agonist 52809-07-1
Piracetam Nootropic; modulates Na+-flux at AMPA receptors 7491-74-9

(61) ApexBio Compounds for GRIA3 Gene

Compound Action Cas Number
(R)-AMPA 83654-13-1
(RS)-AMPA 74341-63-2
(RS)-AMPA hydrobromide 171259-81-7
(S)-(-)-5-Fluorowillardiine 140187-23-1
(S)-AMPA 83643-88-3
(S)-CPW 399 AMPA agonist,subtype-selective,weakly desensitizing 389888-02-2
1-BCP 34023-62-6
ADX-47273 851881-60-2
Ampalex Ampakine and nootropic 154235-83-3
Aniracetam Nootropic drug for senile dementia 72432-10-1
CFM-2 178616-26-7
Cl-HIBO 909400-43-7
CMPDA 380607-77-2
CNQX 115066-14-3
CNQX disodium salt 479347-85-8
CP 465022 hydrochloride AMPA receptor antagonist, non-competitive and selective 199655-36-2
CX 546 215923-54-9
Cyclothiazide 2259-96-3
Diazoxide 364-98-7
DNQX disodium salt 1312992-24-7
GYKI 47261 dihydrochloride AMPA receptor antagonist, non-competitive and selective 1217049-32-5
GYKI 52466 dihydrochloride 102771-26-6
GYKI 53655 hydrochloride 143692-48-2
IDRA 21 22503-72-6
IEM 1460 121034-89-7
IEM 1754 dihydrobroMide 162831-31-4
IEM 1925 dihydrobromide 258282-23-4
Ifenprodil Tartrate NMDA receptor antagonist 23210-58-4
Latrepirdine Brain cell death inhibitor 97657-92-6
L-Quisqualic acid 52809-07-1
LY450108 AMPA receptor potentiator 376594-67-1
LY451395 Allosteric modulator 375345-95-2
Naspm trihydrochloride 1049731-36-3
NBQX 118876-58-7
NBQX disodium salt 479347-86-9
NMDA (N-Methyl-D-aspartic acid) NMDA receptor agonist 6384-92-5
Noopept Nootropic and neuroprotective agent 157115-85-0
NPEC-caged-(S)-AMPA 1257323-84-4
Pep1-AGL
Pep1-TGL
pep2-AVKI 1315378-69-8
pep2-EVKI 1315378-67-6
pep2m 243843-42-7
Pep2m, myristoylated
pep2-SVKE 1315378-76-7
pep2-SVKI 328944-75-8
pep4c 243843-43-8
PEPA 141286-78-4
Perampanel AMPA-type glutamate receptor antagonist 380917-97-5
PF 4778574 1219633-99-4
Philanthotoxin 74 1227301-51-0
S 18986 175340-20-2
SYM 2206 173952-44-8
Talampanel(LY300164) AMPA-receptor antagonist 161832-65-1
Tezampanel AMPA and receptor antagonist 154652-83-2
UBP 282 544697-47-4
VU 0361737 MGlu4 receptor allosteric modulator 1161205-04-4
VU 0364439 Positive allosteric mGluR-4 modulator 1246086-78-1
VU 0364770 61350-00-3
YM 90K hydrochloride 154164-30-4
ZK 200775 161605-73-8
genes like me logo Genes that share compounds with GRIA3: view

Drug Products

Transcripts for GRIA3 Gene

Unigene Clusters for GRIA3 Gene

Glutamate receptor, ionotropic, AMPA 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRIA3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - - - - -
SP2: - - - - -
SP3: -
SP4: - -
SP5: - - -

Relevant External Links for GRIA3 Gene

GeneLoc Exon Structure for
GRIA3
ECgene alternative splicing isoforms for
GRIA3

Expression for GRIA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GRIA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRIA3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.2), Brain - Anterior cingulate cortex (BA24) (x6.2), Brain - Cortex (x5.8), Brain - Putamen (basal ganglia) (x4.7), Brain - Hippocampus (x4.6), and Brain - Nucleus accumbens (basal ganglia) (x4.4).

Protein differential expression in normal tissues from HIPED for GRIA3 Gene

This gene is overexpressed in Nasal epithelium (37.0), Synovial fluid (15.2), and Frontal cortex (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GRIA3 Gene



NURSA nuclear receptor signaling pathways regulating expression of GRIA3 Gene:

GRIA3

SOURCE GeneReport for Unigene cluster for GRIA3 Gene:

Hs.377070

Evidence on tissue expression from TISSUES for GRIA3 Gene

  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIA3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GRIA3: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GRIA3 Gene

Orthologs for GRIA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRIA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRIA3 33 34
  • 99.89 (n)
oppossum
(Monodelphis domestica)
Mammalia GRIA3 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRIA3 33 34
  • 96.01 (n)
dog
(Canis familiaris)
Mammalia GRIA3 33 34
  • 95.79 (n)
mouse
(Mus musculus)
Mammalia Gria3 33 16 34
  • 95.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GRIA3 34
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gria3 33
  • 94.67 (n)
chicken
(Gallus gallus)
Aves GRIA3 33 34
  • 83.93 (n)
lizard
(Anolis carolinensis)
Reptilia GRIA3 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gria3 33
  • 80.98 (n)
zebrafish
(Danio rerio)
Actinopterygii gria3a 34
  • 86 (a)
OneToMany
gria3b 33 34
  • 77.54 (n)
gria3 33
fruit fly
(Drosophila melanogaster)
Insecta Glu-RIB 35 33
  • 53.46 (n)
Glu-RI 35
  • 42 (a)
CG9935 35
  • 40 (a)
CG15627 35
  • 33 (a)
Glu-RIIA 35
  • 31 (a)
CG4226 35
  • 29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006027 33
  • 52.76 (n)
worm
(Caenorhabditis elegans)
Secernentea glr-1 35 33
  • 50.13 (n)
glr-4 35
  • 31 (a)
Species where no ortholog for GRIA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRIA3 Gene

ENSEMBL:
Gene Tree for GRIA3 (if available)
TreeFam:
Gene Tree for GRIA3 (if available)

Paralogs for GRIA3 Gene

(10) SIMAP similar genes for GRIA3 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with GRIA3: view

Variants for GRIA3 Gene

Sequence variations from dbSNP and Humsavar for GRIA3 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs137852350 pathogenic, Mental retardation, X-linked, syndromic, wu type, Mental retardation, X-linked 94 (MRX94) [MIM:300699] 123,482,856(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs137852351 pathogenic, Mental retardation, X-linked, syndromic, wu type, Mental retardation, X-linked 94 (MRX94) [MIM:300699] 123,427,954(+) C/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs137852352 pathogenic, Mental retardation, X-linked, syndromic, wu type, Mental retardation, X-linked 94 (MRX94) [MIM:300699] 123,464,905(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs139058646 benign, not specified, not provided 123,417,394(+) T/A genic_downstream_transcript_variant, intron_variant
rs139990565 likely-pathogenic, Mental retardation, X-linked, syndromic, wu type 123,326,163(+) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, stop_gained, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for GRIA3 Gene

Variant ID Type Subtype PubMed ID
dgv2416e212 CNV loss 25503493
esv22122 CNV loss 19812545
esv2662475 CNV deletion 23128226
esv2740445 CNV deletion 23290073
esv3446067 CNV insertion 20981092
esv3559281 CNV deletion 23714750
esv3574503 CNV loss 25503493
nsv508797 CNV insertion 20534489
nsv511653 CNV loss 21212237
nsv512696 CNV loss 21212237
nsv7067 CNV insertion 18451855

Variation tolerance for GRIA3 Gene

Residual Variation Intolerance Score: 6.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRIA3 Gene

Human Gene Mutation Database (HGMD)
GRIA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIA3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIA3 Gene

Disorders for GRIA3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GRIA3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic, wu type
  • mrxsw
rasmussen encephalitis
  • rasmussen syndrome
canavan disease
  • canavan-van bogaert-bertrand disease
bipolar disorder
  • major affective disorder 1
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search GRIA3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRIA3_HUMAN
  • Mental retardation, X-linked 94 (MRX94) [MIM:300699]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX94 patients have moderate mental retardation. Other variable features are macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness and hyporeflexia. {ECO:0000269 PubMed:17989220}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GRIA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for GRIA3 Gene

Publications for GRIA3 Gene

  1. Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. (PMID: 10644433) Gécz J … Mulley JC (Genomics 1999) 2 3 4 22 58
  2. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. (PMID: 10602120) Amir R … Zoghbi HY (American journal of medical genetics 2000) 3 4 22 58
  3. A population-based association study of candidate genes for depression and sleep disturbance. (PMID: 19548263) Utge S … Paunio T (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58
  4. Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility. (PMID: 20579352) Formicola D … Esposito T (BMC medical genetics 2010) 3 44 58
  5. Hippocampal AMPA receptor gating controlled by both TARP and cornichon proteins. (PMID: 21172611) Kato AS … Bredt DS (Neuron 2010) 3 4 58

Products for GRIA3 Gene

Sources for GRIA3 Gene

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