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 p... See more...

Aliases for GRIA4 Gene

Aliases for GRIA4 Gene

  • Glutamate Ionotropic Receptor AMPA Type Subunit 4 2 3 5
  • Glutamate Receptor, Ionotrophic, AMPA 4 2 3
  • AMPA-Selective Glutamate Receptor 4 3 4
  • Glutamate Receptor 4 3 4
  • GluR-4 3 4
  • GluR-D 3 4
  • GLUR4 3 4
  • GluA4 3 4
  • Glutamate Receptor, Ionotropic, AMPA 4 3
  • Glutamate Receptor Ionotropic, AMPA 4 4
  • GLUR4C 3
  • NEDSGA 3
  • GLURD 3
  • GluR4 4

External Ids for GRIA4 Gene

Previous HGNC Symbols for GRIA4 Gene

  • GLUR4

Previous GeneCards Identifiers for GRIA4 Gene

  • GC11P107674
  • GC11P106838
  • GC11P105514
  • GC11P105018
  • GC11P104986
  • GC11P101412

Summaries for GRIA4 Gene

Entrez Gene Summary for GRIA4 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 of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]

GeneCards Summary for GRIA4 Gene

GRIA4 (Glutamate Ionotropic Receptor AMPA Type Subunit 4) is a Protein Coding gene. Diseases associated with GRIA4 include Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities and Schizophrenia. Among its related pathways are Circadian entrainment and Long-term potentiation. 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 GRIA2.

UniProtKB/Swiss-Prot Summary for GRIA4 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 GRIA4 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 GRIA4 Gene

Additional gene information for GRIA4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRIA4 Gene

Genomics for GRIA4 Gene

GeneHancer (GH) Regulatory Elements for GRIA4 Gene

Promoters and enhancers for GRIA4 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
GH11J105610 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +2.0 2003 5.2 CTCF TEAD4 MXI1 POLR2A SMC3 FOXP2 RAD21 GLIS1 CHD7 YY1 GRIA4 AASDHPPT CASP4 piR-38352-094
GH11J105515 Enhancer 0.8 ENCODE 7.3 -94.0 -93951 1.6 GTF2E2 TOE1 MYC CTBP1 NFRKB TRIM25 TAF9B KDM5B NFIC MYNN lnc-CARD18-1 GRIA4 CARD18 lnc-CARD18-2 LOC105369468
GH11J105297 Enhancer 0.8 FANTOM5 Ensembl ENCODE 7.5 -312.0 -311997 2 FOS JUND GATA2 JUN STAT3 CARD17 GRIA4 CASP5 CASP4 CARD16 hsa-miR-5095-077 ENSG00000278640 CARD18 lnc-CARD18-2
GH11J105630 Enhancer 0.4 Ensembl 11.7 +20.2 20207 0.4 TEAD4 POLR3A JUN JUND KDM1A GRIA4 piR-38352-094
GH11J105466 Enhancer 0.4 Ensembl 10.8 -142.9 -142893 1.4 EP300 FOS TCF7L2 GATA2 GRIA4 piR-41839 lnc-CARD18-1 CARD18 LOC105369468 lnc-CARD18-2 piR-32023-050
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRIA4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRIA4

Top Transcription factor binding sites by QIAGEN in the GRIA4 gene promoter:
  • AREB6
  • FOXI1
  • FOXO4
  • NF-E2
  • NF-E2 p45

Genomic Locations for GRIA4 Gene

Genomic Locations for GRIA4 Gene
chr11:105,609,994-105,982,092
(GRCh38/hg38)
Size:
372,099 bases
Orientation:
Plus strand
chr11:105,480,721-105,852,819
(GRCh37/hg19)
Size:
372,099 bases
Orientation:
Plus strand

Genomic View for GRIA4 Gene

Genes around GRIA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRIA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRIA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRIA4 Gene

Proteins for GRIA4 Gene

  • Protein details for GRIA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48058-GRIA4_HUMAN
    Recommended name:
    Glutamate receptor 4
    Protein Accession:
    P48058
    Secondary Accessions:
    • Q86XE8

    Protein attributes for GRIA4 Gene

    Size:
    902 amino acids
    Molecular mass:
    100871 Da
    Quaternary structure:
    • Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers. Interacts with EPB41L1 via its C-terminus (By similarity). Found in a complex with GRIA1, GRIA2, GRIA3, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with CACNG5 and PRKCG (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 GRIA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRIA4 Gene

Post-translational modifications for GRIA4 Gene

  • Palmitoylated. Depalmitoylated upon glutamate stimulation. Cys-611 palmitoylation leads to Golgi retention and decreased cell surface expression. In contrast, Cys-837 palmitoylation does not affect cell surface expression but regulates stimulation-dependent endocytosis (By similarity).
  • Phosphorylated at Ser-862 by PRKCG; phosphorylation increases plasma membrane-associated GRI4 expression.
  • Glycosylation at Asn56, Asn258, Asn371, Asn407, and Asn414
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GRIA4 Gene

Domains & Families for GRIA4 Gene

Gene Families for GRIA4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GRIA4 Gene

Blocks:
  • Extracellular ligand-binding receptor
  • Ionotropic glutamate receptor
  • NMDA receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRIA4 Gene

GenScript: Design optimal peptide antigens:
  • GRIA4 protein (A6QL61_HUMAN)
  • Glutamate receptor 4 variant (C5IJI4_HUMAN)
  • Glutamate receptor ionotropic, AMPA 4 (GRIA4_HUMAN)
  • GRIA4 protein (Q1WWK6_HUMAN)
  • Alternative splicing isoform of ionotrophic glutamate receptor subunit (Q6L8Q8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48058

UniProtKB/Swiss-Prot:

GRIA4_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. GRIA4 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. GRIA4 subfamily.
genes like me logo Genes that share domains with GRIA4: view

Function for GRIA4 Gene

Molecular function for GRIA4 Gene

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.
GENATLAS Biochemistry:
glutamate receptor,subunit 4,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

Phenotypes From GWAS Catalog for GRIA4 Gene

Gene Ontology (GO) - Molecular Function for GRIA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding NAS 26719327
GO:0004970 ionotropic glutamate receptor activity ISS,IEA --
GO:0004971 AMPA glutamate receptor activity IBA,IDA 21172611
GO:0005216 ion channel activity IEA --
GO:0008066 glutamate receptor activity IBA 21873635
genes like me logo Genes that share ontologies with GRIA4: view
genes like me logo Genes that share phenotypes with GRIA4: view

Human Phenotype Ontology for GRIA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRIA4 Gene

MGI Knock Outs for GRIA4:

Animal Model Products

  • Taconic Biosciences Mouse Models for GRIA4

CRISPR Products

miRNA for GRIA4 Gene

miRTarBase miRNAs that target GRIA4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRIA4 Gene

Localization for GRIA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRIA4 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell projection, dendrite. Note=Interaction with CNIH2, CNIH3 and PRKCG 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 GRIA4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GRIA4 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:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with GRIA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRIA4 Gene

Pathways & Interactions for GRIA4 Gene

genes like me logo Genes that share pathways with GRIA4: view

Pathways by source for GRIA4 Gene

1 GeneGo (Thomson Reuters) pathway for GRIA4 Gene
  • Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
5 Qiagen pathways for GRIA4 Gene
  • CREB Pathway
  • Dopamine-DARPP32 Feedback onto cAMP Pathway
  • Intracellular Calcium Signaling
  • Neuropathic Pain-Signaling in Dorsal Horn Neurons
  • Pathogenesis of ALS
2 Cell Signaling Technology pathways for GRIA4 Gene

SIGNOR curated interactions for GRIA4 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for GRIA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007215 glutamate receptor signaling pathway TAS 8589990
GO:0034220 ion transmembrane transport IEA --
GO:0035235 ionotropic glutamate receptor signaling pathway IEA --
GO:0035249 synaptic transmission, glutamatergic IBA 21873635
genes like me logo Genes that share ontologies with GRIA4: view

Drugs & Compounds for GRIA4 Gene

(46) Drugs for GRIA4 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Piracetam Approved, Investigational Pharma Positive, Allosteric regulator Nootropic; modulates Na+-flux at AMPA receptors 0
Ethanol Approved Pharma Target 3220
Cyclothiazide Approved Pharma Positive, Allosteric regulator, inhibitor 0
Fluciclovine (18F) Approved Pharma Target, inhibitor 0
Glutamic acid Approved Nutra Full agonist, Agonist, Target 289

(2) Additional Compounds for GRIA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for GRIA4 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

(8) ApexBio Compounds for GRIA4 Gene

Compound Action Cas Number
ADX-47273 851881-60-2
IEM 1754 dihydrobroMide 162831-31-4
Ifenprodil Tartrate NMDA receptor antagonist 23210-58-4
Latrepirdine Brain cell death inhibitor 97657-92-6
NMDA (N-Methyl-D-aspartic acid) NMDA receptor agonist 6384-92-5
VU 0361737 MGlu4 receptor allosteric modulator 1161205-04-4
VU 0364439 Positive allosteric mGluR-4 modulator 1246086-78-1
VU 0364770 61350-00-3
genes like me logo Genes that share compounds with GRIA4: view

Drug Products

Transcripts for GRIA4 Gene

mRNA/cDNA for GRIA4 Gene

4 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRIA4 Gene

No ASD Table

Relevant External Links for GRIA4 Gene

GeneLoc Exon Structure for
GRIA4

Expression for GRIA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRIA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRIA4 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x9.0), Brain - Cerebellum (x7.4), Brain - Frontal Cortex (BA9) (x5.2), and Brain - Anterior cingulate cortex (BA24) (x4.9).

Protein differential expression in normal tissues from HIPED for GRIA4 Gene

This gene is overexpressed in Vitreous humor (44.6), Cerebrospinal fluid (8.1), and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GRIA4 Gene



Protein tissue co-expression partners for GRIA4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRIA4

SOURCE GeneReport for Unigene cluster for GRIA4 Gene:

Hs.503743

Evidence on tissue expression from TISSUES for GRIA4 Gene

  • Nervous system(4.9)
  • Eye(2.7)
genes like me logo Genes that share expression patterns with GRIA4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRIA4 Gene

Orthologs for GRIA4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GRIA4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GRIA4 31
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GRIA4 31 30
  • 97.06 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRIA4 31
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRIA4 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRIA4 31 30
  • 94.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gria4 30
  • 91.65 (n)
mouse
(Mus musculus)
Mammalia Gria4 17 31 30
  • 90.91 (n)
chicken
(Gallus gallus)
Aves GRIA4 31 30
  • 89.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRIA4 31
  • 91 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gria4a 31
  • 89 (a)
OneToMany
gria4b 31
  • 89 (a)
OneToMany
Dr.13666 30
fruit fly
(Drosophila melanogaster)
Insecta CG11155 32
  • 51 (a)
Glu-RI 32
  • 41 (a)
CG9935 32
  • 40 (a)
Glu-RIB 32
  • 36 (a)
Kai-RIA 32
  • 34 (a)
CG5621 32
  • 34 (a)
Glu-RIIA 32
  • 32 (a)
CG4226 32
  • 28 (a)
CG15627 32
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea glr-1 32
  • 49 (a)
glr-4 32
  • 32 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GLR3.4 30
  • 40.86 (n)
rice
(Oryza sativa)
Liliopsida Os06g0680500 30
  • 38.36 (n)
Species where no ortholog for GRIA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GRIA4 Gene

ENSEMBL:
Gene Tree for GRIA4 (if available)
TreeFam:
Gene Tree for GRIA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRIA4: view image

Paralogs for GRIA4 Gene

(11) SIMAP similar genes for GRIA4 Gene using alignment to 10 proteins:

  • GRIA4_HUMAN
  • A6QL61_HUMAN
  • C5IJI4_HUMAN
  • E9PJZ5_HUMAN
  • E9PQN1_HUMAN
  • E9PQY1_HUMAN
  • G3V164_HUMAN
  • G8HBB0_HUMAN
  • H0YDL4_HUMAN
  • Q1WWK6_HUMAN
genes like me logo Genes that share paralogs with GRIA4: view

Variants for GRIA4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRIA4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
631525 Likely Pathogenic: Obesity 105,933,884(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
769218 Benign: not provided 105,933,968(+) A/. MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,NO_SEQUENCE_ALTERATION
779265 Benign: not provided 105,974,305(+) C/A INTRON_VARIANT
781814 Benign: not provided 105,753,169(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1555050158 Pathogenic/Likely Pathogenic: Intellectual functioning disability; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES. Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864] 105,926,808(+) A/Tp.Thr639Ser MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for GRIA4 Gene

Structural Variations from Database of Genomic Variants (DGV) for GRIA4 Gene

Variant ID Type Subtype PubMed ID
dgv23n6 CNV deletion 16902084
esv2000018 CNV deletion 18987734
esv2520318 CNV deletion 19546169
esv2599683 CNV deletion 19546169
esv2658816 CNV deletion 23128226
esv2669612 CNV deletion 23128226
esv2672300 CNV deletion 23128226
esv2745021 CNV deletion 23290073
esv2745022 CNV deletion 23290073
esv2745023 CNV deletion 23290073
esv3304515 CNV mobile element insertion 20981092
esv3417415 CNV insertion 20981092
esv3548298 CNV deletion 23714750
esv3548302 CNV deletion 23714750
esv3579896 CNV loss 25503493
esv3627616 CNV loss 21293372
esv3627617 CNV loss 21293372
esv3627619 CNV loss 21293372
esv3627620 CNV loss 21293372
esv3892096 CNV gain 25118596
esv4809 CNV loss 18987735
esv6086 CNV loss 19470904
esv9295 CNV loss 19470904
nsv1052674 CNV loss 25217958
nsv1053687 CNV loss 25217958
nsv1075434 CNV duplication 25765185
nsv1075839 CNV duplication 25765185
nsv1134173 CNV deletion 24896259
nsv1144590 CNV deletion 24896259
nsv39184 CNV deletion 16902084
nsv472 CNV insertion 18451855
nsv832256 CNV gain 17160897
nsv832257 CNV loss 17160897

Variation tolerance for GRIA4 Gene

Residual Variation Intolerance Score: 3.06% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRIA4 Gene

Human Gene Mutation Database (HGMD)
GRIA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRIA4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRIA4 Gene

Disorders for GRIA4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GRIA4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GRIA4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRIA4_HUMAN
  • Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) [MIM:617864]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent from infancy or early childhood, mild to profound intellectual disability, hypertonia early in life, which progresses to spasticity and impaired gait later, and behavioral abnormalities. Some patients may develop seizures of variable severity early in life. {ECO:0000269 PubMed:29220673}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GRIA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GRIA4: view

No data available for Genatlas for GRIA4 Gene

Publications for GRIA4 Gene

  1. No genetic association between polymorphisms in the AMPA receptor subunit GluR4 gene (GRIA4) and schizophrenia in the Chinese population. (PMID: 15450689) Guo S … He L (Neuroscience letters 2004) 3 23 41 54
  2. Positive association of the AMPA receptor subunit GluR4 gene (GRIA4) haplotype with schizophrenia: linkage disequilibrium mapping using SNPs evenly distributed across the gene region. (PMID: 12497607) Makino C … Fukumaki Y (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003) 3 23 41 54
  3. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. (PMID: 29220673) Martin S … Abou Jamra R (American journal of human genetics 2017) 3 4 54
  4. Hippocampal AMPA receptor gating controlled by both TARP and cornichon proteins. (PMID: 21172611) Kato AS … Bredt DS (Neuron 2010) 3 4 54
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41 54

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