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

Summary

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
GRM7 gene mutations and consequences for neurodevelopment.
Title: GRM7 gene mutations and consequences for neurodevelopment.
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.
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.
Structures of human mGlu2 and mGlu7 homo- and heterodimers.
Title: Structures of human mGlu2 and mGlu7 homo- and heterodimers.
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.
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.
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.
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	not available

EBI GWAS Catalog

Description
A genome-wide scan for breast cancer risk haplotypes among African American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of panic disorder in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of personality traits in bipolar patients. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

G42359 (e-PCR)
- UniSTS:94218

SHGC-141598 (e-PCR)
- UniSTS:171047

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

L29656 (e-PCR)
- UniSTS:63283

GRM7_1388 (e-PCR)
- UniSTS:277300

D3S1304 (e-PCR), detects polymorphism
- UniSTS:78656

SHGC-2389 (e-PCR)
- UniSTS:91977

D3S1304 (e-PCR), detects polymorphism
- UniSTS:60489

G42655 (e-PCR)
- UniSTS:94555

G62898 (e-PCR)
- UniSTS:139873

G32514 (e-PCR)
- UniSTS:117099

D3S3055 (e-PCR)
- UniSTS:7025

A009F40 (e-PCR)
- UniSTS:30583

SHGC-82113 (e-PCR)
- UniSTS:103037

G63891 (e-PCR)
- UniSTS:146563

SHGC-82964 (e-PCR)
- UniSTS:101256

SHGC-79598 (e-PCR)
- UniSTS:104586

G65576 (e-PCR)
- UniSTS:225420

SHGC-106435 (e-PCR)
- UniSTS:169870

D11S3114 (e-PCR)
- UniSTS:152207

RH121274 (e-PCR)
- UniSTS:138385

RH80246 (e-PCR)
- UniSTS:89514

RH67815 (e-PCR)
- UniSTS:92086

SHGC-83375 (e-PCR)
- UniSTS:101064

D3S3728 (e-PCR)
- UniSTS:38096

RH93962 (e-PCR)
- UniSTS:84194

D21S1269 (e-PCR)
- UniSTS:66025

SHGC-85025 (e-PCR)
- UniSTS:103403

D3S3277 (e-PCR)
- UniSTS:13549

SHGC-143144 (e-PCR)
- UniSTS:174067

SHGC-76677 (e-PCR)
- UniSTS:50938

D3S3386 (e-PCR)
- UniSTS:62973

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

NG_029781.2 RefSeqGene

Range

5002..885420

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

6861115..7741533

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000419835.1, ENST00000467425.5
XM_047448053.1 → XP_047304009.1 metabotropic glutamate receptor 7 isoform X2
XM_017006272.2 → XP_016861761.1 metabotropic glutamate receptor 7 isoform X3

UniProtKB/TrEMBL

Q59G95
XM_017006273.2 → XP_016861762.1 metabotropic glutamate receptor 7 isoform X4

UniProtKB/TrEMBL

Q59G95

Related

ENSP00000516621.1, ENST00000706912.1

RNA

XR_001740135.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

6851699..7732437

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054346378.1 → XP_054202353.1 metabotropic glutamate receptor 7 isoform X5
XM_054346379.1 → XP_054202354.1 metabotropic glutamate receptor 7 isoform X1

UniProtKB/TrEMBL

B9EGG9
XM_054346380.1 → XP_054202355.1 metabotropic glutamate receptor 7 isoform X2

UniProtKB/TrEMBL

B7ZKK0
XM_054346381.1 → XP_054202356.1 metabotropic glutamate receptor 7 isoform X4
XM_054346383.1 → XP_054202358.1 metabotropic glutamate receptor 7 isoform X7
XM_054346382.1 → XP_054202357.1 metabotropic glutamate receptor 7 isoform X6

RNA

XR_008486710.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_181875.1: Suppressed sequence

Description

NM_181875.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.