Property Summary

NCBI Gene PubMed Count 26
PubMed Score 111.02
PubTator Score 14.72

Knowledge Summary

Patent (2,608)

TINX Plot

  Disease Sources (6)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.100 0.000

Synonym

Accession O43424 E9PH24 Q4KKU8 Q4KKU9 Q4KKV0 Q59FZ1 GluD2
Symbols GluD2
SCAR18

Gene

PDB

5KC8   5KCA  

  Ortholog (9)

Species Source
Chimp OMA EggNOG Inparanoid
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Opossum OMA Inparanoid
Platypus OMA EggNOG
Chicken OMA Inparanoid

  TechDev Info (1)

Susumu Tomita Biochemical interaction

Gene RIF (13)

PMID Text
26905411 Glutamate system genes including have been associated with disease risk in recent analyses from the Psychiatric Genomics Consortium.
25841024 GRID2 point mutations: cerebellar ataxia is the core phenotype, but with variable severity ranging from very mild adult-onset to congenital-onset linked to both the heterozygous and homozygous state of the variant, and the position of the mutation.
25146332 findings suggest a possible role of GRID2 in the susceptibility to develop mevalonate kinase deficiency. GRID2 gene associated with MKD: The rs1450500 SNP was differently distributed in patients with MKD with respect to those with recurrent fever.
25122145 We demonstrated for the first time GRID2 expression and localization in human and murine retina, providing evidence for a novel functional role of GRID2 in the retina.
24357660 GluD2 gating is triggered by type 1 metabotropic glutamate receptors.
24078737 GRID2 mutations are associated with a recessive syndrome causing cerebellar ataxia and eye movement abnormalities.
23512105 Tests for gene-environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers
21368048 Glutamate receptor delta2 is involved in a common mechanism that restricts the number of synaptic AMPA receptors at parallel fiber synapses in cerebellar Purkinje cells.
20859245 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20487506 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MEVFPFLLVLSVWWSRTWDSANADSIIHIGAIFDESAKKDDEVFRTAVGDLNQNEEILQTEKITFSVTFV      1 - 70
DGNNPFQAVQEACELMNQGILALVSSIGCTSAGSLQSLADAMHIPHLFIQRSTAGTPRSGCGLTRSNRND     71 - 140
DYTLSVRPPVYLHDVILRVVTEYAWQKFIIFYDSEYDIRGIQEFLDKVSQQGMDVALQKVENNINKMITT    141 - 210
LFDTMRIEELNRYRDTLRRAILVMNPATAKSFITEVVETNLVAFDCHWIIINEEINDVDVQELVRRSIGR    211 - 280
LTIIRQTFPVPQNISQRCFRGNHRISSTLCDPKDPFAQNMEISNLYIYDTVLLLANAFHKKLEDRKWHSM    281 - 350
ASLSCIRKNSKPWQGGRSMLETIKKGGVSGLTGELEFGENGGNPNVHFEILGTNYGEELGRGVRKLGCWN    351 - 420
PVTGLNGSLTDKKLENNMRGVVLRVVTVLEEPFVMVSENVLGKPKKYQGFSIDVLDALSNYLGFNYEIYV    421 - 490
APDHKYGSPQEDGTWNGLVGELVFKRADIGISALTITPDRENVVDFTTRYMDYSVGVLLRRAEKTVDMFA    491 - 560
CLAPFDLSLWACIAGTVLLVGLLVYLLNWLNPPRLQMGSMTSTTLYNSMWFVYGSFVQQGGEVPYTTLAT    561 - 630
RMMMGAWWLFALIVISSYTANLAAFLTITRIESSIQSLQDLSKQTEIPYGTVLDSAVYEHVRMKGLNPFE    631 - 700
RDSMYSQMWRMINRSNGSENNVLESQAGIQKVKYGNYAFVWDAAVLEYVAINDPDCSFYTIGNTVADRGY    701 - 770
GIALQHGSPYRDVFSQRILELQQNGDMDILKHKWWPKNGQCDLYSSVDTKQKGGALDIKSFAGVFCILAA    771 - 840
GIVLSCFIAMLETWWNKRKGSRVPSKEDDKEIDLEHLHRRVNSLCTDDDSPHKQFSTSSIDLTPLDIDTL    841 - 910
PTRQALEQISDFRNTHITTTTFIPEQIQTLSRTLSAKAASGFTFGNVPEHRTGPFRHRAPNGGFFRSPIK    911 - 980
TMSSIPYQPTPTLGLNLGNDPDRGTSI                                               981 - 1007
//

Text Mined References (28)

PMID Year Title
26905411 2016 Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes.
25841024 2015 GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
25146332 2015 GRID2 a novel gene possibly associated with mevalonate kinase deficiency.
25122145 2015 Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
24357660 2014 Type 1 metabotropic glutamate receptors (mGlu1) trigger the gating of GluD2 delta glutamate receptors.
24078737 2013 Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
23611888 2013 A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.
23512105 2013 Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
21368048 2011 Glutamate receptor ?2 is essential for input pathway-dependent regulation of synaptic AMPAR contents in cerebellar Purkinje cells.
More...