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GRM7 glutamate metabotropic receptor 7 [ Homo sapiens (human) ]

Gene ID: 2917, updated on 11-Apr-2024

Summary

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Official Symbol
GRM7provided by HGNC
Official Full Name
glutamate metabotropic receptor 7provided by HGNC
Primary source
HGNC:HGNC:4599
See related
Ensembl:ENSG00000196277 MIM:604101; AllianceGenome:HGNC:4599
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
GLUR7; MGLU7; GPRC1G; MGLUR7; NEDSHBA; PPP1R87
Summary
L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See GRM7 in Genome Data Viewer
Location:
3p26.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (6861115..7741533)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (6851699..7732437)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (6902802..7783220)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene GRM7 antisense RNA 3 Neighboring gene uncharacterized LOC105376943 Neighboring gene uncharacterized LOC105376945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:6902925-6903916 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:6962116-6962317 Neighboring gene GRM7 antisense RNA 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71090 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71094 Neighboring gene GRM7 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:7724316-7724883 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:7742164-7742714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:7829630-7830380 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:7830381-7831129 Neighboring gene uncharacterized LOC124909342 Neighboring gene NANOG hESC enhancer GRCh37_chr3:7957473-7958144 Neighboring gene uncharacterized LOC101927394

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. GRM7 gene mutations and consequences for neurodevelopment. Freitas GA, et al. Pharmacol Biochem Behav, 2023 Apr. PMID 37003303, Free PMC Article
  2. A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity. Jdila MB, et al. Orphanet J Rare Dis, 2021 Jul 17. PMID 34273994, Free PMC Article
  3. A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis. Chaumette B, et al. Schizophr Res, 2022 Nov. PMID 32624350
  4. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Marafi D, et al. Ann Clin Transl Neurol, 2020 May. PMID 32286009, Free PMC Article
  5. Variants of GRM7 as risk factor and response to antipsychotic therapy in schizophrenia. Liang W, et al. Transl Psychiatry, 2020 Mar 3. PMID 32127521, Free PMC Article

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GRM7-related disorder: five additional patients from three independent families and review of the literature.
    Title: GRM7-related disorder: five additional patients from three independent families and review of the literature.
  2. Associations between GRM7 polymorphisms and obesity in patients selected for sleeve gastrectomy.
    Title: Associations between GRM7 polymorphisms and obesity in patients selected for sleeve gastrectomy.
  3. GRM7 gene mutations and consequences for neurodevelopment.
    Title: GRM7 gene mutations and consequences for neurodevelopment.
  4. Correlation between variants of the CREB1 and GRM7 genes and risk of depression.
    Title: Correlation between variants of the CREB1 and GRM7 genes and risk of depression.
  5. A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis.
    Title: A polymorphism in the glutamate metabotropic receptor 7 is associated with cognitive deficits in the early phases of psychosis.
  6. Structures of human mGlu2 and mGlu7 homo- and heterodimers.
    Title: Structures of human mGlu2 and mGlu7 homo- and heterodimers.
  7. A GRM7 mutation associated with developmental delay reduces mGlu7 expression and produces neurological phenotypes.
    Title: A GRM7 mutation associated with developmental delay reduces mGlu7 expression and produces neurological phenotypes.
  8. A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity.
    Title: A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity.
  9. Association between the group III metabotropic glutamate receptor gene polymorphisms and attention-deficit/hyperactivity disorder and functional exploration of risk loci.
    Title: Association between the group III metabotropic glutamate receptor gene polymorphisms and attention-deficit/hyperactivity disorder and functional exploration of risk loci.
  10. Variants of GRM7 as risk factor and response to antipsychotic therapy in schizophrenia.
    Title: Variants of GRM7 as risk factor and response to antipsychotic therapy in schizophrenia.
Submit: New GeneRIF Correction See all GeneRIFs (51)

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
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
MedGen: C5394517 OMIM: 618922 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide scan for breast cancer risk haplotypes among African American women.
EBI GWAS Catalog
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
EBI GWAS Catalog
Genome-wide association study of panic disorder in the Japanese population.
EBI GWAS Catalog
Genome-wide association study of personality traits in bipolar patients.
EBI GWAS Catalog
Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat The gene expression of GRM7 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40498

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables adenylate cyclase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glutamate receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables group III metabotropic glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables group III metabotropic glutamate receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein dimerization activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables serine binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled glutamate receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in axon development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
NOT involved_in behavioral fear response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chemical synaptic transmission IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of glutamate secretion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in asymmetric synapse ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cell cortex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in dendrite IDA
Inferred from Direct Assay
more info
 PubMed 
located_in dendritic shaft ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in presynaptic active zone ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
metabotropic glutamate receptor 7
Names
glutamate receptor, metabotropic 7
protein phosphatase 1, regulatory subunit 87

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_029781.2 RefSeqGene

    Range
    5002..885420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000844.4 → NP_000835.1  metabotropic glutamate receptor 7 isoform a precursor

    See identical proteins and their annotated locations for NP_000835.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as hmGluR7a) encodes the predominant isoform (a).
    Source sequence(s)
    AB209214, AC077690, AK123326, AK312488, X94552
    Consensus CDS
    CCDS43042.1
    UniProtKB/Swiss-Prot
    Q14831, Q8NFS2, Q8NFS3, Q8NFS4
    UniProtKB/TrEMBL
    B2R693
    Related
    ENSP00000350348.4, ENST00000357716.9
    Conserved Domains (3) summary
    cd15451
    Location:589 → 895
    7tmC_mGluR7; metabotropic glutamate receptor 7 in group 3, member of the class C family of seven-transmembrane G protein-coupled receptors
    cd06376
    Location:43 → 511
    PBP1_mGluR_groupIII; ligand-binding domain of the group III metabotropic glutamate receptor
    pfam07562
    Location:519 → 569
    NCD3G; Nine Cysteines Domain of family 3 GPCR

  2. NM_181874.3 → NP_870989.1  metabotropic glutamate receptor 7 isoform b precursor

    See identical proteins and their annotated locations for NP_870989.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as hmGluR7b) differs in the 3' UTR and includes an alternate segment in the 3' coding region, compared to variant 1, which results in a frameshift. The encoded isoform (b) has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC077690, AK123326, AK312488, BC136459, X94552
    UniProtKB/TrEMBL
    H7C3K2
    Related
    ENSP00000417536.1, ENST00000486284.5
    Conserved Domains (4) summary
    cd06376
    Location:47 → 511
    PBP1_mGluR_groupIII; Ligand-binding domain of the group III metabotropic glutamate receptor
    pfam00003
    Location:602 → 847
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:77 → 484
    ANF_receptor; Receptor family ligand binding region
    pfam07562
    Location:521 → 567
    NCD3G; Nine Cysteines Domain of family 3 GPCR

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    6861115..7741533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448052.1 → XP_047304008.1  metabotropic glutamate receptor 7 isoform X1

    Related
    ENSP00000419835.1, ENST00000467425.5

  2. XM_047448053.1 → XP_047304009.1  metabotropic glutamate receptor 7 isoform X2

  3. XM_017006272.2 → XP_016861761.1  metabotropic glutamate receptor 7 isoform X3

    UniProtKB/TrEMBL
    Q59G95

  4. XM_017006273.2 → XP_016861762.1  metabotropic glutamate receptor 7 isoform X4

    UniProtKB/TrEMBL
    Q59G95
    Related
    ENSP00000516621.1, ENST00000706912.1

RNA

  1. XR_001740135.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    6851699..7732437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346378.1 → XP_054202353.1  metabotropic glutamate receptor 7 isoform X5

  2. XM_054346379.1 → XP_054202354.1  metabotropic glutamate receptor 7 isoform X1

    UniProtKB/TrEMBL
    B9EGG9

  3. XM_054346380.1 → XP_054202355.1  metabotropic glutamate receptor 7 isoform X2

    UniProtKB/TrEMBL
    B7ZKK0

  4. XM_054346381.1 → XP_054202356.1  metabotropic glutamate receptor 7 isoform X4

  5. XM_054346383.1 → XP_054202358.1  metabotropic glutamate receptor 7 isoform X7

  6. XM_054346382.1 → XP_054202357.1  metabotropic glutamate receptor 7 isoform X6

RNA

  1. XR_008486710.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181875.1: Suppressed sequence

    Description
    NM_181875.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14831.1 GenPept UniProtKB/Swiss-Prot:Q14831

Gene LinkOut

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