Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GRID2 Gene

Aliases for GRID2 Gene

  • Glutamate Ionotropic Receptor Delta Type Subunit 2 2 3 5
  • Glutamate Receptor, Ionotropic, Delta 2 2 3
  • GluR Delta-2 Subunit 3 4
  • GluD2 3 4
  • Glutamate Receptor Ionotropic, Delta-2 3
  • 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 Spinocerebellar Ataxia 5. Among its related pathways are CREB Pathway and Long-term depression. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRID2 Gene

Genomics for GRID2 Gene

Regulatory Elements for GRID2 Gene

Enhancers for GRID2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G092304 1.4 FANTOM5 Ensembl ENCODE 17.5 +1.8 1813 1.9 CTCF MXI1 ZNF777 SUZ12 TEAD4 RBBP5 CTBP1 GLIS2 POLR2A PATZ1 GRID2 ENSG00000248511 MTND1P19
GH04G092276 0.7 ENCODE dbSUPER 11.5 -26.2 -26242 1.6 POLR2A CHD1 GRID2 ENSG00000248511 LNCPRESS2
GH04G092774 0.3 FANTOM5 17.1 +470.9 470866 0.2 GRID2 GC04M092822 MTND1P19
GH04G092634 0.3 FANTOM5 13.3 +330.6 330632 0.3 GRID2 MTND1P19 ENSG00000248511
GH04G092303 0.7 ENCODE 0.7 +0.3 278 0.3 ZNF263 CTCF MAZ MXI1 RNF2 CHD1 REST RBBP5 POLR2A ZNF341 ENSG00000248511 GRID2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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:
93,810,157 bp from pter
Size:
1,506,536 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};

    Three dimensional structures from OCA and Proteopedia for GRID2 Gene

    Alternative splice isoforms for GRID2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRID2 Gene

Post-translational modifications for GRID2 Gene

  • Glycosylation at isoforms=2293 and posLast=426426
  • Modification sites at PhosphoSitePlus

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:0005216 ion channel activity IEA --
GO:0005234 extracellular-glutamate-gated ion channel activity IEA --
GO:0008066 glutamate receptor activity TAS 9465309
GO:0030165 PDZ domain 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

Inhibitory RNA Products

Clone Products

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
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 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:0005886 plasma membrane IEA,ISS --
GO:0005887 integral component of plasma membrane TAS 9465309
GO:0008328 ionotropic glutamate receptor complex ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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,IEA 9465309
GO:0006811 ion transport IEA --
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS --
GO:0007215 glutamate receptor signaling pathway TAS 9465309
GO:0010975 regulation of neuron projection development IEA --
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: DrugBank, PharmGKB, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Risperidone Approved, Investigational Pharma Antagonist SR-2A inhibitor 492
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

Drug Products

Transcripts for GRID2 Gene

mRNA/cDNA for GRID2 Gene

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

Unigene Clusters for GRID2 Gene

Glutamate receptor, ionotropic, delta 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of GRID2 Gene:

GRID2

SOURCE GeneReport for Unigene cluster for GRID2 Gene:

Hs.480281

Evidence on tissue expression from TISSUES for GRID2 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRID2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GRID2: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia GRID2 34 35
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia GRID2 34 35
  • 94.79 (n)
dog
(Canis familiaris)
Mammalia GRID2 34
  • 94.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GRID2 35
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRID2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grid2 34 16 35
  • 90.2 (n)
rat
(Rattus norvegicus)
Mammalia Grid2 34
  • 89.94 (n)
chicken
(Gallus gallus)
Aves GRID2 34 35
  • 84.18 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 96 (a)
OneToMany
-- 35
  • 94 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia grid2 34
  • 79.08 (n)
zebrafish
(Danio rerio)
Actinopterygii grid2 34 35
  • 72.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15627 36
  • 28 (a)
Glu-RIB 35
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea glr-4 35
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToMany
Species where no ortholog for GRID2 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 (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
VAR_074166 Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]
VAR_074167 Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]
VAR_074168 Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]
rs1000000909 -- 93,648,404(+) GAAGA(A/G)GCTTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1016e214 CNV loss 21293372
dgv1017e214 CNV gain 21293372
dgv1513e212 CNV loss 25503493
dgv159n6 CNV deletion 16902084
dgv2854n106 CNV deletion 24896259
dgv5338n100 CNV loss 25217958
dgv5339n100 CNV loss 25217958
dgv5340n100 CNV loss 25217958
dgv5341n100 CNV loss 25217958
dgv884n67 CNV gain 20364138
dgv885n67 CNV loss 20364138
dgv9167n54 CNV loss 21841781
dgv9168n54 CNV loss 21841781
dgv9169n54 CNV loss 21841781
dgv9170n54 CNV loss 21841781
dgv9171n54 CNV loss 21841781
dgv9172n54 CNV loss 21841781
dgv9173n54 CNV loss 21841781
dgv962e199 CNV deletion 23128226
dgv963e199 CNV deletion 23128226
esv1005959 CNV deletion 20482838
esv1009225 CNV deletion 20482838
esv1009689 CNV deletion 20482838
esv1107786 CNV deletion 17803354
esv1115049 CNV deletion 17803354
esv1428298 CNV deletion 17803354
esv1585596 CNV deletion 17803354
esv1916438 CNV deletion 18987734
esv2351099 CNV deletion 18987734
esv2385359 CNV deletion 18987734
esv24403 CNV loss 19812545
esv25695 CNV loss 19812545
esv2583140 CNV deletion 19546169
esv2592799 CNV deletion 19546169
esv2657328 CNV deletion 23128226
esv2658123 CNV deletion 23128226
esv2659254 CNV deletion 23128226
esv2659413 CNV deletion 23128226
esv2659971 CNV deletion 23128226
esv2663113 CNV deletion 23128226
esv2666159 CNV deletion 23128226
esv2666919 CNV deletion 23128226
esv2668394 CNV deletion 23128226
esv2669576 CNV deletion 23128226
esv2674787 CNV deletion 23128226
esv2677473 CNV deletion 23128226
esv2727979 CNV deletion 23290073
esv2727980 CNV deletion 23290073
esv2727981 CNV deletion 23290073
esv2727982 CNV deletion 23290073
esv2727983 CNV deletion 23290073
esv2727985 CNV deletion 23290073
esv2727986 CNV deletion 23290073
esv2727987 CNV deletion 23290073
esv2727988 CNV deletion 23290073
esv2727989 CNV deletion 23290073
esv2760848 CNV loss 21179565
esv2763843 CNV loss 21179565
esv3299717 CNV deletion 24192839
esv3335140 CNV duplication 20981092
esv33364 CNV gain 17666407
esv3366101 CNV duplication 20981092
esv3374701 CNV duplication 20981092
esv3440174 CNV insertion 20981092
esv3450455 CNV duplication 20981092
esv3564252 CNV deletion 23714750
esv3564253 CNV deletion 23714750
esv3564257 CNV deletion 23714750
esv3564258 CNV deletion 23714750
esv3564260 CNV deletion 23714750
esv3564261 CNV deletion 23714750
esv3564265 CNV deletion 23714750
esv3564269 CNV deletion 23714750
esv3564272 CNV deletion 23714750
esv3569590 CNV loss 25503493
esv3569592 CNV loss 25503493
esv3569595 CNV loss 25503493
esv3569596 CNV loss 25503493
esv3569597 CNV loss 25503493
esv3569599 CNV loss 25503493
esv3569600 CNV loss 25503493
esv3569601 CNV loss 25503493
esv3569602 CNV loss 25503493
esv3569603 CNV loss 25503493
esv3569604 CNV loss 25503493
esv3575760 CNV gain 25503493
esv3575762 CNV gain 25503493
esv3584808 CNV loss 24956385
esv3601393 CNV gain 21293372
esv3601396 CNV gain 21293372
esv3601397 CNV loss 21293372
esv3601398 CNV gain 21293372
esv3601401 CNV loss 21293372
esv3601403 CNV loss 21293372
esv3601404 CNV loss 21293372
esv3601406 CNV gain 21293372
esv3601408 CNV loss 21293372
esv3601409 CNV loss 21293372
esv3601412 CNV loss 21293372
esv3601413 CNV loss 21293372
esv3601415 CNV loss 21293372
esv3601416 CNV gain 21293372
esv3601417 CNV loss 21293372
esv3601418 CNV loss 21293372
esv3601419 CNV loss 21293372
esv3601420 CNV loss 21293372
esv3601421 CNV gain 21293372
esv3601422 CNV loss 21293372
esv3601423 CNV loss 21293372
esv3601424 CNV loss 21293372
esv3601425 CNV loss 21293372
esv3601428 CNV loss 21293372
esv3601431 CNV loss 21293372
esv3601432 CNV loss 21293372
esv3601433 CNV loss 21293372
esv3601434 CNV loss 21293372
esv3601436 CNV loss 21293372
esv3601437 CNV gain 21293372
esv3601438 CNV loss 21293372
esv3601439 CNV loss 21293372
esv3893983 CNV gain 25118596
esv3893991 CNV loss 25118596
esv3893992 CNV loss 25118596
esv9473 CNV loss 19470904
esv989581 CNV insertion 20482838
esv995204 CNV deletion 20482838
esv998960 CNV insertion 20482838
nsv1001759 CNV loss 25217958
nsv1002664 CNV gain 25217958
nsv1003867 CNV gain 25217958
nsv1005999 CNV loss 25217958
nsv1009960 CNV gain 25217958
nsv1010290 CNV loss 25217958
nsv1011740 CNV loss 25217958
nsv1013255 CNV loss 25217958
nsv1013341 CNV loss 25217958
nsv1072947 CNV deletion 25765185
nsv1073782 CNV deletion 25765185
nsv1073783 CNV deletion 25765185
nsv1074196 CNV deletion 25765185
nsv1074197 CNV deletion 25765185
nsv1074736 CNV deletion 25765185
nsv1109625 CNV deletion 24896259
nsv1118718 CNV duplication 24896259
nsv1123817 CNV deletion 24896259
nsv1136890 CNV deletion 24896259
nsv1139287 CNV deletion 24896259
nsv1139288 CNV deletion 24896259
nsv1139289 CNV deletion 24896259
nsv1143291 CNV deletion 24896259
nsv1143292 CNV deletion 24896259
nsv1147401 CNV deletion 26484159
nsv1152199 CNV deletion 26484159
nsv1153302 CNV deletion 26484159
nsv291186 CNV deletion 16902084
nsv292478 CNV deletion 16902084
nsv292897 CNV deletion 16902084
nsv436409 CNV deletion 17901297
nsv436959 CNV loss 16327808
nsv437927 CNV loss 16468122
nsv441900 CNV loss 18776908
nsv4431 CNV deletion 18451855
nsv4433 CNV deletion 18451855
nsv461587 CNV gain 19166990
nsv461588 CNV gain 19166990
nsv470056 CNV gain 18288195
nsv473521 CNV novel sequence insertion 20440878
nsv477200 CNV novel sequence insertion 20440878
nsv478910 CNV novel sequence insertion 20440878
nsv499055 CNV loss 21111241
nsv509914 OTHER sequence alteration 20534489
nsv511270 CNV gain 21212237
nsv513150 CNV loss 21212237
nsv513151 CNV loss 21212237
nsv513152 CNV loss 21212237
nsv594866 CNV gain 21841781
nsv594868 CNV gain 21841781
nsv594869 CNV gain 21841781
nsv594876 CNV loss 21841781
nsv594877 CNV loss 21841781
nsv594900 CNV gain 21841781
nsv818253 CNV loss 17921354
nsv818254 CNV gain 17921354
nsv820106 CNV loss 19587683
nsv821607 CNV deletion 20802225
nsv821636 CNV gain 15273396
nsv822648 CNV loss 20364138
nsv822654 CNV loss 20364138
nsv830007 CNV gain 17160897
nsv830008 CNV gain 17160897
nsv830009 CNV gain 17160897
nsv950360 CNV deletion 24416366
nsv956314 CNV deletion 24416366
nsv956417 CNV deletion 24416366
nsv964071 CNV duplication 23825009
nsv997789 CNV gain 25217958
nsv998246 CNV gain 25217958

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

Human Gene Mutation Database (HGMD)
GRID2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRID2

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

Disorders for GRID2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 18
  • autosomal recessive spinocerebellar ataxia 18
spinocerebellar ataxia 5
  • spinocerebellar ataxia type 5
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
ataxia
- 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 22 64
  2. GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. (PMID: 25841024) Coutelier M. … Durr A. (Neurology 2015) 3 4 64
  3. A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. (PMID: 23611888) Utine G.E. … AlikaA9ifoA9lu M. (J. Child Neurol. 2013) 3 4 64
  4. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. (PMID: 24078737) Hills L.B. … Mochida G.H. (Neurology 2013) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for GRID2 Gene

Sources for GRID2 Gene

Content
Loading form....