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Aliases for GRID2 Gene

Aliases for GRID2 Gene

  • Glutamate Ionotropic Receptor Delta Type Subunit 2 2 3
  • Glutamate Receptor, Ionotropic, Delta 2 2 3 5
  • GluR Delta-2 Subunit 3 4
  • GluD2 3 4
  • Glutamate Receptor Delta-2 Subunit 3
  • SCAR18 3
  • GLURD2 4

External Ids for GRID2 Gene

Previous GeneCards Identifiers for GRID2 Gene

  • GC04P093383
  • GC04P093527
  • GC04P093684
  • GC04P093582
  • GC04P093225
  • GC04P088967

Summaries for GRID2 Gene

Entrez Gene Summary for GRID2 Gene

  • The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]

GeneCards Summary for GRID2 Gene

GRID2 (Glutamate Ionotropic Receptor Delta Type Subunit 2) is a Protein Coding gene. Diseases associated with GRID2 include spinocerebellar ataxia, autosomal recessive 18 and autosomal recessive congenital cerebellar ataxia due to grid2 deficiency. Among its related pathways are CREB Pathway and Peptide ligand-binding receptors. GO annotations related to this gene include PDZ domain binding and ionotropic glutamate receptor activity. An important paralog of this gene is GRID1.

UniProtKB/Swiss-Prot for GRID2 Gene

  • Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists.

Gene Wiki entry for GRID2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRID2 Gene

Genomics for GRID2 Gene

Regulatory Elements for GRID2 Gene

Promoters for GRID2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GRID2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GRID2 Gene

Chromosome:
4
Start:
92,303,622 bp from pter
End:
93,774,556 bp from pter
Size:
1,470,935 bases
Orientation:
Plus strand

Genomic View for GRID2 Gene

Genes around GRID2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRID2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRID2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRID2 Gene

Proteins for GRID2 Gene

  • Protein details for GRID2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43424-GRID2_HUMAN
    Recommended name:
    Glutamate receptor ionotropic, delta-2
    Protein Accession:
    O43424
    Secondary Accessions:
    • E9PH24
    • Q4KKU8
    • Q4KKU9
    • Q4KKV0
    • Q59FZ1

    Protein attributes for GRID2 Gene

    Size:
    1007 amino acids
    Molecular mass:
    113356 Da
    Quaternary structure:
    • Interacts with AIP1, AP4M1, BECN1, GOPC, GRID2IP, SHANK1 and SHANK2. Interacts with EML2 (By similarity). Interacts with CBLN1 and CBLN2, but not with CBLN4. CBLN1-binding is calcium-independent (By similarity).
    SequenceCaution:
    • Sequence=BAD92555.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for GRID2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRID2 Gene

Proteomics data for GRID2 Gene at MOPED

Post-translational modifications for GRID2 Gene

  • Glycosylation at Asn 293 and Asn 426
  • Modification sites at PhosphoSitePlus

Other Protein References for GRID2 Gene

Antibody Products

No data available for DME Specific Peptides for GRID2 Gene

Domains & Families for GRID2 Gene

Gene Families for GRID2 Gene

Suggested Antigen Peptide Sequences for GRID2 Gene

Graphical View of Domain Structure for InterPro Entry

O43424

UniProtKB/Swiss-Prot:

GRID2_HUMAN :
  • The PDZ-binding motif mediates interaction with GOPC.
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID2 subfamily.
Domain:
  • The PDZ-binding motif mediates interaction with GOPC.
Family:
  • Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID2 subfamily.
genes like me logo Genes that share domains with GRID2: view

Function for GRID2 Gene

Molecular function for GRID2 Gene

GENATLAS Biochemistry:
glutamate receptor,ionotropic,delta 2
UniProtKB/Swiss-Prot Function:
Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists.

Gene Ontology (GO) - Molecular Function for GRID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004970 ionotropic glutamate receptor activity IEA --
GO:0097110 scaffold protein binding ISS --
genes like me logo Genes that share ontologies with GRID2: view
genes like me logo Genes that share phenotypes with GRID2: view

Human Phenotype Ontology for GRID2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRID2 Gene

MGI Knock Outs for GRID2:

Animal Model Products

miRNA for GRID2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GRID2 Gene

Localization for GRID2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRID2 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRID2 Gene COMPARTMENTS Subcellular localization image for GRID2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GRID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9465309
GO:0016020 membrane IEA --
GO:0045202 synapse ISS --
GO:0045211 postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with GRID2: view

Pathways & Interactions for GRID2 Gene

genes like me logo Genes that share pathways with GRID2: view

Pathways by source for GRID2 Gene

2 Qiagen pathways for GRID2 Gene

Gene Ontology (GO) - Biological Process for GRID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9465309
GO:0007215 glutamate receptor signaling pathway TAS 9465309
GO:0010975 regulation of neuron projection development IEA --
GO:0021707 cerebellar granule cell differentiation ISS --
GO:0035249 synaptic transmission, glutamatergic ISS --
genes like me logo Genes that share ontologies with GRID2: view

No data available for SIGNOR curated interactions for GRID2 Gene

Drugs & Compounds for GRID2 Gene

(11) Drugs for GRID2 Gene - From: ApexBio, PharmGKB, Novoseek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Risperidone Approved, Investigational Pharma Antagonist SR-2A inhibitor 477
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0
ADX-47273 Pharma 0
IEM 1754 dihydrobroMide Pharma 0
Ifenprodil Tartrate Pharma NMDA receptor antagonist 0

(2) Additional Compounds for GRID2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(8) ApexBio Compounds for GRID2 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 GRID2: view

Transcripts for GRID2 Gene

mRNA/cDNA for GRID2 Gene

(5) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GRID2 Gene

Glutamate receptor, ionotropic, delta 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GRID2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1:
SP2: -

Relevant External Links for GRID2 Gene

GeneLoc Exon Structure for
GRID2
ECgene alternative splicing isoforms for
GRID2

Expression for GRID2 Gene

mRNA expression in normal human tissues for GRID2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRID2 Gene

This gene is overexpressed in Brain - Cerebellum (x11.7), Brain - Cerebellar Hemisphere (x8.4), Testis (x4.8), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for GRID2 Gene

This gene is overexpressed in Amniocyte (27.6) and Monocytes (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRID2 Gene



SOURCE GeneReport for Unigene cluster for GRID2 Gene Hs.480281

genes like me logo Genes that share expression patterns with GRID2: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GRID2 Gene

Orthologs for GRID2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRID2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GRID2 35
  • 94.79 (n)
  • 99.57 (a)
GRID2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRID2 35
  • 94.47 (n)
  • 99.11 (a)
mouse
(Mus musculus)
Mammalia Grid2 35
  • 90.2 (n)
  • 97.62 (a)
Grid2 16
Grid2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GRID2 35
  • 99.57 (n)
  • 99.9 (a)
GRID2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grid2 35
  • 89.94 (n)
  • 97.52 (a)
oppossum
(Monodelphis domestica)
Mammalia GRID2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRID2 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRID2 35
  • 84.18 (n)
  • 94.24 (a)
GRID2 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 94 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia grid2 35
  • 79.08 (n)
  • 89.97 (a)
zebrafish
(Danio rerio)
Actinopterygii grid2 35
  • 72.36 (n)
  • 82.03 (a)
grid2 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15627 37
  • 28 (a)
Glu-RIB 36
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea glr-4 36
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for GRID2:
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 GRID2 Gene

ENSEMBL:
Gene Tree for GRID2 (if available)
TreeFam:
Gene Tree for GRID2 (if available)

Paralogs for GRID2 Gene

Paralogs for GRID2 Gene

genes like me logo Genes that share paralogs with GRID2: view

Variants for GRID2 Gene

Sequence variations from dbSNP and Humsavar for GRID2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_035697 A colorectal cancer sample
rs34144324 - 92,590,245(+) AGTGA(C/T)GTTTG reference, missense
rs34796082 - 93,238,438(+) CCACT(C/T)TGAAA reference, missense
rs10034345 - 93,422,891(+) TTTAC(A/C/G)TAGCA reference, missense
VAR_074166 Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18)

Structural Variations from Database of Genomic Variants (DGV) for GRID2 Gene

Variant ID Type Subtype PubMed ID
nsv879594 CNV Gain 21882294
nsv470056 CNV Gain 18288195
nsv461587 CNV Gain 19166990
dgv5656n71 CNV Gain 21882294
nsv830007 CNV Gain 17160897
nsv513150 CNV Loss 21212237
esv2668394 CNV Deletion 23128226
nsv879605 CNV Loss 21882294
nsv879606 CNV Loss 21882294
esv2385359 CNV Deletion 18987734
esv2727979 CNV Deletion 23290073
esv1428298 CNV Deletion 17803354
nsv291186 CNV Loss 16902084
nsv441900 CNV CNV 18776908
esv2663113 CNV Deletion 23128226
nsv879607 CNV Loss 21882294
dgv5657n71 CNV Loss 21882294
nsv818253 CNV Loss 17921354
nsv830008 CNV Gain 17160897
nsv879610 CNV Loss 21882294
esv2657328 CNV Deletion 23128226
esv2677473 CNV Deletion 23128226
esv2674787 CNV Deletion 23128226
esv989581 CNV Insertion 20482838
esv25695 CNV Loss 19812545
dgv884n67 CNV Gain 20364138
esv2583140 CNV Deletion 19546169
nsv513151 CNV Loss 21212237
esv998960 CNV Insertion 20482838
esv2727980 CNV Deletion 23290073
esv2666159 CNV Deletion 23128226
esv2727981 CNV Deletion 23290073
esv2659413 CNV Deletion 23128226
esv2669576 CNV Deletion 23128226
dgv5658n71 CNV Loss 21882294
esv1005959 CNV Deletion 20482838
nsv879613 CNV Loss 21882294
nsv511270 CNV Gain 21212237
esv2659254 CNV Deletion 23128226
nsv822648 CNV Loss 20364138
dgv962e199 CNV Deletion 23128226
nsv820106 CNV Loss 19587683
dgv963e199 CNV Deletion 23128226
dgv885n67 CNV Loss 20364138
nsv821607 CNV Deletion 20802225
esv33364 CNV Gain 17666407
esv24403 CNV Loss 19812545
nsv879614 CNV Loss 21882294
esv2727982 CNV Deletion 23290073
esv2659971 CNV Deletion 23128226
nsv822654 CNV Loss 20364138
esv9473 CNV Loss 19470904
esv2592799 CNV Deletion 19546169
esv2727983 CNV Deletion 23290073
nsv461588 CNV Gain 19166990
nsv818254 CNV Gain 17921354
nsv879615 CNV Loss 21882294
nsv509914 CNV Loss 20534489
esv2727985 CNV Deletion 23290073
esv2351099 CNV Deletion 18987734
esv2727986 CNV Deletion 23290073
nsv292478 CNV Loss 16902084
esv1009225 CNV Deletion 20482838
esv1107786 CNV Deletion 17803354
nsv879616 CNV Gain 21882294
esv2666919 CNV Deletion 23128226
nsv830009 CNV Gain 17160897
esv2727987 CNV Deletion 23290073
esv1916438 CNV Deletion 18987734
esv1009689 CNV Deletion 20482838
dgv159n6 CNV Loss 16902084
esv1115049 CNV Deletion 17803354
esv2727988 CNV Deletion 23290073
nsv292897 CNV Loss 16902084
nsv821636 CNV Gain 15273396
nsv436959 CNV Loss 16327808
nsv437927 CNV Loss 16468122
nsv4431 CNV Loss 18451855
esv995204 CNV Deletion 20482838
nsv436409 CNV Deletion 17901297
nsv513152 CNV Loss 21212237
esv2727989 CNV Deletion 23290073
esv2658123 CNV Deletion 23128226
nsv499055 CNV Loss 21111241
esv1585596 CNV Deletion 17803354
nsv4433 CNV Loss 18451855

Variation tolerance for GRID2 Gene

Residual Variation Intolerance Score: 6.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.04; 80.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRID2 Gene

HapMap Linkage Disequilibrium report
GRID2
Human Gene Mutation Database (HGMD)
GRID2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRID2 Gene

Disorders for GRID2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GRID2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 18
  • autosomal recessive spinocerebellar ataxia 18
autosomal recessive congenital cerebellar ataxia due to grid2 deficiency
  • spinocerebellar ataxia, autosomal recessive 18
spinocerebellar ataxia 5
  • spinocerebellar ataxia type 5
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
obstructive hydrocephalus
- elite association - COSMIC cancer census association via MalaCards
Search GRID2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRID2_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability. {ECO:0000269 PubMed:23611888, ECO:0000269 PubMed:24078737, ECO:0000269 PubMed:25841024}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GRID2

Genetic Association Database (GAD)
GRID2
Human Genome Epidemiology (HuGE) Navigator
GRID2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRID2
genes like me logo Genes that share disorders with GRID2: view

No data available for Genatlas for GRID2 Gene

Publications for GRID2 Gene

  1. The human glutamate receptor delta 2 gene (GRID2) maps to chromosome 4q22. (PMID: 9465309) Hu W. … Heintz N. (Genomics 1998) 2 3 4 23 67
  2. Binding of glutamate receptor delta2 to its scaffold protein, Delphilin, is regulated by PKA. (PMID: 17027646) Sonoda T. … Kawamoto S. (Biochem. Biophys. Res. Commun. 2006) 3 23
  3. Heteromer formation of delta2 glutamate receptors with AMPA or kainate receptors. (PMID: 12573530) Kohda K. … Yuzaki M. (Brain Res. Mol. Brain Res. 2003) 3 23
  4. GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. (PMID: 25841024) Coutelier M. … Durr A. (Neurology 2015) 3
  5. Type 1 metabotropic glutamate receptors (mGlu1) trigger the gating of GluD2 delta glutamate receptors. (PMID: 24357660) Ady V. … Levenes C. (EMBO Rep. 2014) 3

Products for GRID2 Gene

Sources for GRID2 Gene

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