GRID2 (glutamate ionotropic receptor delta type subunit 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2895
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate ionotropic receptor delta type subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRID2
Synonyms (NCBI Gene) Gene synonyms aliases
GluD2, SCAR18
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.1-q22.2
Summary Summary of gene provided in NCBI Entrez 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 sel
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs368143665 G>A Likely-pathogenic Coding sequence variant, genic upstream transcript variant, missense variant
rs750331613 C>T Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs1560556892 G>A Likely-pathogenic Stop gained, coding sequence variant, genic upstream transcript variant
rs1579319300 C>T Likely-pathogenic Coding sequence variant, stop gained, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT557466 hsa-miR-448 PAR-CLIP 21572407
MIRT518601 hsa-miR-5011-5p PAR-CLIP 21572407
MIRT518600 hsa-miR-190a-3p PAR-CLIP 21572407
MIRT518599 hsa-miR-3924 PAR-CLIP 21572407
MIRT518601 hsa-miR-5011-5p PAR-CLIP 23446348
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(68)
GO ID Ontology Definition Evidence Reference
GO:0004971 Function AMPA glutamate receptor activity IBA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005515 Function Protein binding IPI 27418511
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602368 4576 ENSG00000152208
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43424
Protein name Glutamate receptor ionotropic, delta-2 (GluD2) (GluR delta-2 subunit)
Protein function Member of the ionotropic glutamate receptor family, which plays a crucial role in synaptic organization and signal transduction in the central nervous system. Although it shares structural features with ionotropic glutamate receptors, does not b
PDB 5KC8 , 5KCA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01094 ANF_receptor 39 → 407 Receptor family ligand binding region Family
PF10613 Lig_chan-Glu_bd 441 → 553 Ligated ion channel L-glutamate- and glycine-binding site Domain
PF00060 Lig_chan 566 → 842 Ligand-gated ion channel Family
Sequence 
MEVFPFLLVLSVWWSRTWDSANADSIIHIGAIFDESAKKDDEVFRTAVGDLNQNEEILQT
EKITFSVTFVDGNNPFQAVQEACELMNQGILALVSSIGCTSAGSLQSLADAMHIPHLFIQ
RSTAGTPRSGCGLTRSNRNDDYTLSVRPPVYLHDVILRVVTEYAWQKFIIFYDSEYDIRG
IQEFLDKVSQQGMDVALQKVENNINKMITTLFDTMRIEELNRYRDTLRRAILVMNPATAK
SFITEVVETNLVAFDCHWIIINEEINDVDVQELVRRSIGRLTIIRQTFPVPQNISQRCFR
GNHRISSTLCDPKDPFAQNMEISNLYIYDTVLLLANAFHKKLEDRKWHSMASLSCIRKNS
KPWQGGRSMLETIKKGGVSGLTGELEFGENGGNPNVHFEILGTNYGEELGRGVRKLGCWN
PVTGLNGSLTDKKLENNMRGVVLRVVTVLEEPFVMVSENVLGKPKKYQGFSIDVLDALSN
YLGFNYEIYVAPDHKYGSPQEDGTWNGLVGELVFKRADIGISALTITPDRENVVDFTTRY
MDYSVGVLLRRAEKTVDMFACLAPFDLSLWACIAGTVLLVGLLVYLLNWLNPPRLQMGSM
TSTTLYNSMWFVYGSFVQQGGEVPYTTLATRMMMGAWWLFALIVISSYTANLAAFLTITR
IESSIQSLQDLSKQTEIPYGTVLDSAVYEHVRMKGLNPFERDSMYSQMWRMINRSNGSEN
NVLESQAGIQKVKYGNYAFVWDAAVLEYVAINDPDCSFYTIGNTVADRGYGIALQHGSPY
RDVFSQRILELQQNGDMDILKHKWWPKNGQCDLYSSVDTKQKGGALDIKSFAGVFCILAA
GIVLSCFIAMLETWWNKRKGSRVPSKEDDKEIDLEHLHRRVNSLCTDDDSPHKQFSTSSI
DLTPLDIDTLPTRQALEQISDFRNTHITTTTFIPEQIQTLSRTLSAKAASGFTFGNVPEH
RTGPFRHRAPNGGFFRSPIKTMSSIPYQPTPTLGLNLGNDPDRGTSI
Sequence length 1007
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Neuroactive ligand-receptor interaction
Long-term depression 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia Autosomal recessive spinocerebellar ataxia 18 rs1579319300, rs750331613, rs368143665 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Obsessive-Compulsive Disorder Obsessive-compulsive disorder N/A N/A GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 28628100, 29207948
Brain Diseases Associate 29207948
Cerebellar Diseases Associate 29207948
Developmental Disabilities Associate 29207948
Endometrial Neoplasms Associate 33577492
Glioma Associate 33969375
Intellectual Disability Associate 35159210
Leprosy Associate 22238647
Microphthalmia Syndromic 10 Associate 29207948
Muscle Hypotonia Associate 29207948