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

Gene ID: 2895, updated on 10-Dec-2024

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; 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
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Genomic context

See GRID2 in Genome Data Viewer
Location:
4q22.1-q22.2
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (92303966..93810456)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (95630513..97125831)
RS_2024_09 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

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive spinocerebellar ataxia 18
MedGen: C4015505 OMIM: 616204 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC117022, MGC117023, MGC117024

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AMPA glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables PDZ domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion 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
 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
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 postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of presynapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in synaptic signaling via neuropeptide IDA
Inferred from Direct Assay
more info
PubMed 
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
part_of AMPA glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
is_active_in postsynaptic density membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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_001286838.1NP_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/TrEMBL
    A0A087X043
    Related
    ENSP00000421257.1, ENST00000510992.5
    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_001510.4NP_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: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
    cd06391
    Location:28429
    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_2024_08

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_047450133.1XP_047306089.1  glutamate receptor ionotropic, delta-2 isoform X7

    UniProtKB/TrEMBL
    A0A087X043
  2. XM_024454024.2XP_024309792.1  glutamate receptor ionotropic, delta-2 isoform X2

    UniProtKB/TrEMBL
    A0A087X043
    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
  3. XM_017008122.3XP_016863611.1  glutamate receptor ionotropic, delta-2 isoform X9

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

    UniProtKB/TrEMBL
    A0A087X043
  5. XM_047450132.1XP_047306088.1  glutamate receptor ionotropic, delta-2 isoform X6

    UniProtKB/TrEMBL
    A0A087X043
  6. XM_011531893.3XP_011530195.2  glutamate receptor ionotropic, delta-2 isoform X1

    UniProtKB/TrEMBL
    A0A087X043
  7. XM_017008118.2XP_016863607.1  glutamate receptor ionotropic, delta-2 isoform X3

    UniProtKB/TrEMBL
    A0A087X043
  8. XM_017008121.2XP_016863610.1  glutamate receptor ionotropic, delta-2 isoform X8

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

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

    UniProtKB/TrEMBL
    A0A087X043
    Related
    ENSP00000483084.1, ENST00000611049.4
  11. XM_047450134.1XP_047306090.1  glutamate receptor ionotropic, delta-2 isoform X11

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

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

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

    UniProtKB/TrEMBL
    A0A087X043
    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
  15. XM_024454025.2XP_024309793.1  glutamate receptor ionotropic, delta-2 isoform X12

    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
  16. XM_047450137.1XP_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_054349824.1XP_054205799.1  glutamate receptor ionotropic, delta-2 isoform X7

    UniProtKB/TrEMBL
    A0A087X043
  2. XM_054349819.1XP_054205794.1  glutamate receptor ionotropic, delta-2 isoform X2

    UniProtKB/TrEMBL
    A0A087X043
  3. XM_054349826.1XP_054205801.1  glutamate receptor ionotropic, delta-2 isoform X9

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

    UniProtKB/TrEMBL
    A0A087X043
  5. XM_054349823.1XP_054205798.1  glutamate receptor ionotropic, delta-2 isoform X6

    UniProtKB/TrEMBL
    A0A087X043
  6. XM_054349818.1XP_054205793.1  glutamate receptor ionotropic, delta-2 isoform X1

    UniProtKB/TrEMBL
    A0A087X043
  7. XM_054349820.1XP_054205795.1  glutamate receptor ionotropic, delta-2 isoform X3

    UniProtKB/TrEMBL
    A0A087X043
  8. XM_054349825.1XP_054205800.1  glutamate receptor ionotropic, delta-2 isoform X8

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

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

    UniProtKB/TrEMBL
    A0A087X043
  11. XM_054349828.1XP_054205803.1  glutamate receptor ionotropic, delta-2 isoform X11

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

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

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

    UniProtKB/TrEMBL
    A0A087X043
  15. XM_054349831.1XP_054205806.1  glutamate receptor ionotropic, delta-2 isoform X12

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

RNA

  1. XR_008486971.1 RNA Sequence