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

Gene ID: 2895, updated on 18-Nov-2018

Summary

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; Vega:OTTHUMG00000130975
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

Genomic context

See GRID2 in Genome Data Viewer
Location:
4q22.1-q22.2
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (92303622..93810415)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (93225453..94695707)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene peptidase, mitochondrial processing alpha subunit pseudogene 1 Neighboring gene lncRNA p53 regulated and ESC associated 2 Neighboring gene MT-ND1 pseudogene 19 Neighboring gene receptor for activated C kinase 1 pseudogene Neighboring gene uncharacterized LOC107986295 Neighboring gene RNA, 5S ribosomal pseudogene 164 Neighboring gene atonal bHLH transcription factor 1

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spinocerebellar ataxia, autosomal recessive 18
MedGen: C4015505 OMIM: 616204 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117022, MGC117023, MGC117024

Gene Ontology Provided by GOA

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

General protein information

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)

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_034113.1 RefSeqGene

    Range
    5001..1475158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286838.1NP_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/Swiss-Prot
    O43424
    Related
    ENSP00000421257.1, OTTHUMP00000219270, ENST00000510992.5, OTTHUMT00000362945
    Conserved Domains (3) summary
    cd13731
    Location:345711
    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:473747
    Lig_chan; Ligand-gated ion channel
    cl10011
    Location:28332
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  2. NM_001510.3NP_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, AW295056, BC099653
    Consensus CDS
    CCDS3637.1
    UniProtKB/Swiss-Prot
    O43424
    Related
    ENSP00000282020.4, OTTHUMP00000161600, ENST00000282020.8, OTTHUMT00000253588
    Conserved Domains (4) summary
    cd06391
    Location:28427
    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:440806
    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:568842
    Lig_chan; Ligand-gated ion channel
    pfam01094
    Location:42404
    ANF_receptor; Receptor family ligand binding region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    92303622..93810415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    cd06391
    Location:28443
    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:456822
    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
  2. XM_017008122.2XP_016863611.1  glutamate receptor ionotropic, delta-2 isoform X7

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

  4. XM_011531893.2XP_011530195.2  glutamate receptor ionotropic, delta-2 isoform X1

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

  6. XM_017008121.1XP_016863610.1  glutamate receptor ionotropic, delta-2 isoform X6

  7. XM_017008127.1XP_016863616.1  glutamate receptor ionotropic, delta-2 isoform X12

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

    Related
    ENSP00000483084.1, ENST00000611049.4
  9. XM_017008123.1XP_016863612.1  glutamate receptor ionotropic, delta-2 isoform X10

    Conserved Domains (2) summary
    cd13731
    Location:121487
    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:1108
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  10. XM_017008124.1XP_016863613.1  glutamate receptor ionotropic, delta-2 isoform X10

    Conserved Domains (2) summary
    cd13731
    Location:121487
    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:1108
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  11. XM_017008125.1XP_016863614.1  glutamate receptor ionotropic, delta-2 isoform X10

    Conserved Domains (2) summary
    cd13731
    Location:121487
    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:1108
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  12. XM_011531894.2XP_011530196.1  glutamate receptor ionotropic, delta-2 isoform X8

    Conserved Domains (3) summary
    cd13731
    Location:212578
    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:340614
    Lig_chan; Ligand-gated ion channel
    cl10011
    Location:2199
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  13. XM_024454026.1XP_024309794.1  glutamate receptor ionotropic, delta-2 isoform X11

    Conserved Domains (2) summary
    cd13731
    Location:107473
    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:194
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  14. XM_011531895.2XP_011530197.1  glutamate receptor ionotropic, delta-2 isoform X9

    Conserved Domains (3) summary
    cd13731
    Location:137503
    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:265539
    Lig_chan; Ligand-gated ion channel
    cl10011
    Location:1124
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  15. XM_024454025.1XP_024309793.1  glutamate receptor ionotropic, delta-2 isoform X10

    Conserved Domains (2) summary
    cd13731
    Location:121487
    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:1108
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
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