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GRID2 glutamate ionotropic receptor delta type subunit 2 [ Homo sapiens (human) ]

Gene ID: 2895, updated on 3-Apr-2024

Summary

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Official Symbol
GRID2provided by HGNC
Official Full Name
glutamate ionotropic receptor delta type subunit 2provided by HGNC
Primary source
HGNC:HGNC:4576
See related
Ensembl:ENSG00000152208 MIM:602368; AllianceGenome:HGNC:4576
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GluD2; SCAR18
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
4q22.1-q22.2
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (92303966..93810456)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (95630513..97125831)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (93225117..94695717)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:93104511-93105710 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:93192087-93192994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:93193903-93194810 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:93194811-93195716 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:93197533-93198440 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:93198441-93199346 Neighboring gene PMPCA pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 6143 Neighboring gene lncRNA p53 regulated and ESC associated 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:93353264-93354196 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:93354197-93355129 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:93358086-93358597 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:93359794-93360688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:93360689-93361582 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:93361583-93362476 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:93366052-93366944 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:93365158-93366051 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:93440900-93441601 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:93441602-93442302 Neighboring gene MT-ND1 pseudogene 19 Neighboring gene RACK1 pseudogene 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:94068335-94068896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21726 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:94287122-94287935 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:94329999-94330773 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:94506413-94507612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:94564478-94565145 Neighboring gene Sharpr-MPRA regulatory region 1337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:94748021-94748726 Neighboring gene RNA, 5S ribosomal pseudogene 164 Neighboring gene atonal bHLH transcription factor 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect. Grigorenko AP, et al. Cells, 2022 Jan 25. PMID 35159210, Free PMC Article
  2. Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. Ceylan AC, et al. Acta Neurol Belg, 2021 Dec. PMID 32170608
  3. Association of Gene Variations in Ionotropic Glutamate Receptor and Attention-Deficit/Hyperactivity Disorder in the Chinese Population: A Two-Stage Case-Control Study. Zhang Q, et al. J Atten Disord, 2021 Aug. PMID 32065002
  4. Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features. Ali Z, et al. BMC Med Genet, 2017 Dec 6. PMID 29207948, Free PMC Article
  5. GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Coutelier M, et al. Neurology, 2015 Apr 28. PMID 25841024

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
    Title: Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
  2. Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.
    Title: Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.
  3. Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
    Title: Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
  4. Association of Gene Variations in Ionotropic Glutamate Receptor and Attention-Deficit/Hyperactivity Disorder in the Chinese Population: A Two-Stage Case-Control Study.
    Title: Association of Gene Variations in Ionotropic Glutamate Receptor and Attention-Deficit/Hyperactivity Disorder in the Chinese Population: A Two-Stage Case-Control Study.
  5. Report on a consanguineous family with autosomal recessive childhood onset of cerebellar ataxia and delayed psychomotor development. Using whole exome sequencing we identified a novel homozygous missense variant [c.2128C > T, p.(Arg710Trp)] in GRID2 that segregates with the disease. The missense variant is located in a conserved region encoding the extracellular serine-binding domain of the GluD2 protein.
    Title: Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
  6. GRID2 gene can be a suppressor in TNF-induced neurodegeneration which may help to understand the main factors leading to autism.
    Title: Potential of GRID2 receptor gene for preventing TNF-induced neurodegeneration in autism.
  7. Glutamate system genes including have been associated with disease risk in recent analyses from the Psychiatric Genomics Consortium.
    Title: Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes.
  8. 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.
    Title: GRID2 a novel gene possibly associated with mevalonate kinase deficiency.
  9. 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.
    Title: Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
  10. 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.
    Title: GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive spinocerebellar ataxia 18
MedGen: C4015505 OMIM: 616204 GeneReviews: Not available
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EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC117022, MGC117023, MGC117024

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables PDZ domain binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables scaffold protein binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cerebellar granule cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in excitatory synapse assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glutamate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in modulation of chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of long-term synaptic depression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of synapse assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in prepulse inhibition ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein localization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynaptic density assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of presynapse assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic transmission, glutamatergic ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
part_of ionotropic glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in synapse ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
glutamate receptor ionotropic, delta-2
Names
gluR delta-2 subunit
glutamate receptor delta-2 subunit
glutamate receptor, ionotropic, delta 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034113.2 RefSeqGene

    Range
    5002..1475602
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286838.1 → NP_001273767.1  glutamate receptor ionotropic, delta-2 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB209318, AC104077, AW295056, BC099653, BC099654
    Consensus CDS
    CCDS68758.1
    UniProtKB/TrEMBL
    A0A087X043
    Related
    ENSP00000421257.1, ENST00000510992.5
    Conserved Domains (3) summary
    cd13731
    Location:345 → 711
    PBP2_iGluR_delta_2; The ligand-binding domain of an orphan ionotropic glutamate receptor delta-2, a member of the type 2 periplasmic-binding fold protein superfamily
    pfam00060
    Location:473 → 747
    Lig_chan; Ligand-gated ion channel
    cl10011
    Location:28 → 332
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

  2. NM_001510.4 → NP_001501.2  glutamate receptor ionotropic, delta-2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001501.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB209318, AC104077, AC112695, AW295056, BC099653
    Consensus CDS
    CCDS3637.1
    UniProtKB/Swiss-Prot
    E9PH24, O43424, Q4KKU8, Q4KKU9, Q4KKV0, Q59FZ1
    UniProtKB/TrEMBL
    A0A087X043
    Related
    ENSP00000282020.4, ENST00000282020.9
    Conserved Domains (2) summary
    cd13731
    Location:440 → 806
    PBP2_iGluR_delta_2; The ligand-binding domain of an orphan ionotropic glutamate receptor delta-2, a member of the type 2 periplasmic-binding fold protein superfamily
    cd06391
    Location:28 → 429
    PBP1_iGluR_delta_2; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the delta2 receptor of an orphan glutamate receptor family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    92303966..93810456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047450133.1 → XP_047306089.1  glutamate receptor ionotropic, delta-2 isoform X7

  2. XM_024454024.2 → XP_024309792.1  glutamate receptor ionotropic, delta-2 isoform X2

    UniProtKB/TrEMBL
    A0A087X043
    Conserved Domains (2) summary
    cd06391
    Location:28 → 443
    PBP1_iGluR_delta_2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the delta2 receptor of an orphan glutamate receptor family
    cd13731
    Location:456 → 822
    PBP2_iGluR_delta_2; The ligand-binding domain of an orphan ionotropic glutamate receptor delta-2, a member of the type 2 periplasmic-binding fold protein superfamily

  3. XM_017008122.3 → XP_016863611.1  glutamate receptor ionotropic, delta-2 isoform X9

  4. XM_017008120.3 → XP_016863609.1  glutamate receptor ionotropic, delta-2 isoform X5

    UniProtKB/TrEMBL
    A0A087X043

  5. XM_047450132.1 → XP_047306088.1  glutamate receptor ionotropic, delta-2 isoform X6

  6. XM_011531893.3 → XP_011530195.2  glutamate receptor ionotropic, delta-2 isoform X1

    UniProtKB/TrEMBL
    A0A087X043

  7. XM_017008118.2 → XP_016863607.1  glutamate receptor ionotropic, delta-2 isoform X3

    UniProtKB/TrEMBL
    A0A087X043

  8. XM_017008121.2 → XP_016863610.1  glutamate receptor ionotropic, delta-2 isoform X8

  9. XM_017008127.2 → XP_016863616.1  glutamate receptor ionotropic, delta-2 isoform X14

  10. XM_017008119.2 → XP_016863608.1  glutamate receptor ionotropic, delta-2 isoform X4

    UniProtKB/TrEMBL
    A0A087X043
    Related
    ENSP00000483084.1, ENST00000611049.4

  11. XM_047450134.1 → XP_047306090.1  glutamate receptor ionotropic, delta-2 isoform X11

  12. XM_047450135.1 → XP_047306091.1  glutamate receptor ionotropic, delta-2 isoform X11

  13. XM_047450136.1 → XP_047306092.1  glutamate receptor ionotropic, delta-2 isoform X11

  14. XM_011531894.3 → XP_011530196.1  glutamate receptor ionotropic, delta-2 isoform X10

    UniProtKB/TrEMBL
    A0A087X043
    Conserved Domains (3) summary
    cd13731
    Location:212 → 578
    PBP2_iGluR_delta_2; The ligand-binding domain of an orphan ionotropic glutamate receptor delta-2, a member of the type 2 periplasmic-binding fold protein superfamily
    pfam00060
    Location:340 → 614
    Lig_chan; Ligand-gated ion channel
    cl10011
    Location:2 → 199
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

  15. XM_024454025.2 → XP_024309793.1  glutamate receptor ionotropic, delta-2 isoform X12

    Conserved Domains (2) summary
    cd13731
    Location:121 → 487
    PBP2_iGluR_delta_2; The ligand-binding domain of an orphan ionotropic glutamate receptor delta-2, a member of the type 2 periplasmic-binding fold protein superfamily
    cl10011
    Location:1 → 108
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

  16. XM_047450137.1 → XP_047306093.1  glutamate receptor ionotropic, delta-2 isoform X13

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    95630513..97125831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349824.1 → XP_054205799.1  glutamate receptor ionotropic, delta-2 isoform X7

  2. XM_054349819.1 → XP_054205794.1  glutamate receptor ionotropic, delta-2 isoform X2

  3. XM_054349826.1 → XP_054205801.1  glutamate receptor ionotropic, delta-2 isoform X9

  4. XM_054349822.1 → XP_054205797.1  glutamate receptor ionotropic, delta-2 isoform X5

  5. XM_054349823.1 → XP_054205798.1  glutamate receptor ionotropic, delta-2 isoform X6

  6. XM_054349818.1 → XP_054205793.1  glutamate receptor ionotropic, delta-2 isoform X1

  7. XM_054349820.1 → XP_054205795.1  glutamate receptor ionotropic, delta-2 isoform X3

  8. XM_054349825.1 → XP_054205800.1  glutamate receptor ionotropic, delta-2 isoform X8

  9. XM_054349833.1 → XP_054205808.1  glutamate receptor ionotropic, delta-2 isoform X14

  10. XM_054349821.1 → XP_054205796.1  glutamate receptor ionotropic, delta-2 isoform X4

  11. XM_054349828.1 → XP_054205803.1  glutamate receptor ionotropic, delta-2 isoform X11

  12. XM_054349829.1 → XP_054205804.1  glutamate receptor ionotropic, delta-2 isoform X11

  13. XM_054349830.1 → XP_054205805.1  glutamate receptor ionotropic, delta-2 isoform X11

  14. XM_054349827.1 → XP_054205802.1  glutamate receptor ionotropic, delta-2 isoform X10

  15. XM_054349831.1 → XP_054205806.1  glutamate receptor ionotropic, delta-2 isoform X12

  16. XM_054349832.1 → XP_054205807.1  glutamate receptor ionotropic, delta-2 isoform X13

RNA

  1. XR_008486971.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43424.2 GenPept UniProtKB/Swiss-Prot:O43424

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