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    GRIA4 glutamate ionotropic receptor AMPA type subunit 4 [ Homo sapiens (human) ]

    Gene ID: 2893, updated on 10-Dec-2024

    Summary

    Official Symbol
    GRIA4provided by HGNC
    Official Full Name
    glutamate ionotropic receptor AMPA type subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:4574
    See related
    Ensembl:ENSG00000152578 MIM:138246; AllianceGenome:HGNC:4574
    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
    GLUR4; GLURD; GluA4; GLUR4C; NEDSGA; GluA4-ATD
    Summary
    Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 8.8), adrenal (RPKM 0.9) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GRIA4 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (105609616..105982090)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (105613870..105986693)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (105480800..105852817)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369468 Neighboring gene uncharacterized LOC105369469 Neighboring gene olfactory receptor family 2 subfamily AL member 1 pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:105167667-105168866 Neighboring gene MPRA-validated peak1445 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5462 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:105623830-105625029 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 13 Neighboring gene NANOG hESC enhancer GRCh37_chr11:105670634-105671137 Neighboring gene RNA, U4 small nuclear 55, pseudogene Neighboring gene uncharacterized LOC124902743 Neighboring gene RNA, U6 small nuclear 277, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5466 Neighboring gene Myb/SANT DNA binding domain containing 4 with coiled-coils Neighboring gene kelch repeat and BTB domain containing 3

    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
    Neurodevelopmental disorder with or without seizures and gait abnormalities
    MedGen: C4693391 OMIM: 617864 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of AMPA glutamate receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    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 endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular vesicle HDA PubMed 
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    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
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    glutamate receptor 4
    Names
    AMPA-selective glutamate receptor 4
    gluR-4
    gluR-D
    glutamate receptor, ionotrophic, AMPA 4
    glutamate receptor, ionotropic, AMPA 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_000829.4NP_000820.4  glutamate receptor 4 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). RNA editing (AGA->GGA) changes Arg765Gly.
      Source sequence(s)
      AP000641, AP000673, AP000813, AP001561
      Consensus CDS
      CCDS8333.1
      UniProtKB/Swiss-Prot
      P48058, Q86XE8
      UniProtKB/TrEMBL
      Q1WWK6
      Related
      ENSP00000282499.5, ENST00000282499.10
      Conserved Domains (2) summary
      cd06388
      Location:28398
      PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
      cd13727
      Location:414795
      PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    2. NM_001077243.3NP_001070711.3  glutamate receptor 4 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame coding exon, and uses a downstream donor splice site at the penultimate exon, compared to transcript variant 1. This results in a shorter isoform (2) with a different C-terminus compared to isoform 1. RNA editing (AGA->GGA) changes Arg765Gly.
      Source sequence(s)
      AP000641, AP000673, AP000813, AP001561
      Consensus CDS
      CCDS41706.1
      UniProtKB/TrEMBL
      G3V164, Q1WWK6
      Related
      ENSP00000432180.1, ENST00000525187.6
      Conserved Domains (2) summary
      cd13727
      Location:414795
      PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
      cd06388
      Location:28400
      PBP1_iGluR_AMPA_GluR4; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
    3. NM_001077244.2NP_001070712.1  glutamate receptor 4 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001070712.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is missing several coding exons at the 3' end, and contains a novel 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (3) with a different C-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AP000673, BC045546, DB473702, DB548729
      Consensus CDS
      CCDS41707.1
      UniProtKB/TrEMBL
      A0A8D9PH77, A6QL61
      Related
      ENSP00000376833.2, ENST00000393125.6
      Conserved Domains (1) summary
      cd06388
      Location:28400
      PBP1_iGluR_AMPA_GluR4; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
    4. NM_001112812.2NP_001106283.1  glutamate receptor 4 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001106283.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is missing a 5' non-coding exon and several coding exons at the 3' end, and contains a novel 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (3) with a different C-terminus compared to isoform 1. Variants 3 and 4 have different 5' UTR, but encode the same isoform.
      Source sequence(s)
      AP000673, BC015199, BC045546, DA391203, DB548729
      Consensus CDS
      CCDS41707.1
      UniProtKB/TrEMBL
      A0A8D9PH77, A6QL61
      Related
      ENSP00000415551.2, ENST00000428631.6
      Conserved Domains (1) summary
      cd06388
      Location:28400
      PBP1_iGluR_AMPA_GluR4; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor

    RNA

    1. NR_046356.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and contains an alternate exon compared to variant 1. The alternate exon has an in-frame stop codon that renders this transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this transcript is not likely to be protein-coding.
      Source sequence(s)
      AP000641, AP000673, AP000813, AP001561

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      105609616..105982090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718823.3XP_006718886.1  glutamate receptor 4 isoform X1

      See identical proteins and their annotated locations for XP_006718886.1

      UniProtKB/Swiss-Prot
      P48058, Q86XE8
      UniProtKB/TrEMBL
      Q1WWK6
      Conserved Domains (2) summary
      cd06388
      Location:28398
      PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
      cd13727
      Location:414795
      PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
    2. XM_024448454.2XP_024304222.1  glutamate receptor 4 isoform X6

      UniProtKB/TrEMBL
      A0A8D9PH77, A6QL61
      Conserved Domains (1) summary
      cd06388
      Location:28400
      PBP1_iGluR_AMPA_GluR4; N-terminal leucine-isoleucine-valine binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
    3. XM_047426831.1XP_047282787.1  glutamate receptor 4 isoform X2

      UniProtKB/TrEMBL
      Q1WWK6
    4. XM_005271518.4XP_005271575.1  glutamate receptor 4 isoform X2

      See identical proteins and their annotated locations for XP_005271575.1

      UniProtKB/TrEMBL
      Q1WWK6
      Conserved Domains (4) summary
      cd06388
      Location:28398
      PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
      cd13727
      Location:414795
      PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
      pfam00060
      Location:546825
      Lig_chan; Ligand-gated ion channel
      pfam01094
      Location:39380
      ANF_receptor; Receptor family ligand binding region
    5. XM_017017610.3XP_016873099.1  glutamate receptor 4 isoform X4

      UniProtKB/TrEMBL
      Q59GL7
    6. XM_017017609.2XP_016873098.1  glutamate receptor 4 isoform X3

      UniProtKB/TrEMBL
      A0A994J6J2, Q59GL7
      Related
      ENSP00000515457.2, ENST00000703743.2
    7. XM_024448455.2XP_024304223.1  glutamate receptor 4 isoform X7

      UniProtKB/TrEMBL
      A6QL61
      Conserved Domains (1) summary
      cd06388
      Location:28398
      PBP1_iGluR_AMPA_GluR4; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the GluR4 subunit of the AMPA receptor
    8. XM_011542777.4XP_011541079.1  glutamate receptor 4 isoform X5

      See identical proteins and their annotated locations for XP_011541079.1

      Conserved Domains (4) summary
      cd13727
      Location:244625
      PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
      pfam00060
      Location:376655
      Lig_chan; Ligand-gated ion channel
      pfam01094
      Location:1210
      ANF_receptor; Receptor family ligand binding region
      cl10011
      Location:1228
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    9. XM_017017611.3XP_016873100.1  glutamate receptor 4 isoform X5

      Conserved Domains (4) summary
      cd13727
      Location:244625
      PBP2_iGluR_AMPA_GluR4; The ligand-binding domain of the AMPA (alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionic acid) subtype GluR4 of ionotropic glutamate receptors, a member of the type 2 periplasmic binding fold protein superfamily
      pfam00060
      Location:376655
      Lig_chan; Ligand-gated ion channel
      pfam01094
      Location:1210
      ANF_receptor; Receptor family ligand binding region
      cl10011
      Location:1228
      Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      105613870..105986693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368546.1XP_054224521.1  glutamate receptor 4 isoform X1

      UniProtKB/Swiss-Prot
      P48058, Q86XE8
      UniProtKB/TrEMBL
      Q1WWK6
    2. XM_054368553.1XP_054224528.1  glutamate receptor 4 isoform X6

      UniProtKB/TrEMBL
      A0A8D9PH77, A6QL61
    3. XM_054368548.1XP_054224523.1  glutamate receptor 4 isoform X2

      UniProtKB/TrEMBL
      Q1WWK6
    4. XM_054368547.1XP_054224522.1  glutamate receptor 4 isoform X2

      UniProtKB/TrEMBL
      Q1WWK6
    5. XM_054368549.1XP_054224524.1  glutamate receptor 4 isoform X3

      UniProtKB/TrEMBL
      A0A994J6J2, Q59GL7
    6. XM_054368550.1XP_054224525.1  glutamate receptor 4 isoform X4

      UniProtKB/TrEMBL
      Q59GL7
    7. XM_054368554.1XP_054224529.1  glutamate receptor 4 isoform X7

      UniProtKB/TrEMBL
      A6QL61
    8. XM_054368551.1XP_054224526.1  glutamate receptor 4 isoform X5

    9. XM_054368552.1XP_054224527.1  glutamate receptor 4 isoform X5