HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GRM7
glutamate metabotropic receptor 7
Chromosome 3 Β· 3p26.1
NCBI Gene: 2917Ensembl: ENSG00000196277.17HGNC: HGNC:4599UniProt: B2R693
87PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
behavioral fear responsegroup III metabotropic glutamate receptor activityglutamate receptor activityadenylate cyclase inhibitor activityneurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesGlobal developmental delayNeurodevelopmental disorderearly-infantile DEE
✦AI Summary

GRM7 encodes metabotropic glutamate receptor 7 (mGluR7), a presynaptic G-protein-coupled glutamate receptor essential for modulating neurotransmission 1. The receptor functions by binding glutamate, which triggers conformational changes and G-protein signaling that inhibits adenylate cyclase activity, thereby regulating axon outgrowth through MAPK-cAMP-PKA signaling during neuronal development 1. At the synaptic level, mGluR7 modulates neurotransmitter release and synaptic plasticity at presynaptic terminals 2. GRM7 variants cause neurodevelopmental disorders with diverse phenotypes depending on inheritance pattern and mutational consequences. Biallelic mutations in GRM7 cause severe phenotypes including intellectual disability, seizures, microcephaly, developmental delay, hypomyelination, and brain atrophy 12. Both autosomal dominant and recessive inheritance patterns produce disease, with heterozygous mutations also contributing to neurodevelopmental pathology 2. Emerging evidence links GRM7 polymorphisms to psychiatric conditions including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, major depressive disorder, and schizophrenia 345. Additionally, GRM7 variants influence behavioral phenotypes including emotion regulation, stress responses, and predisposition to addiction 6. Pathogenic mechanisms involve excitotoxicity and neuroinflammation contributing to neurodegeneration 2.

Sources cited
1
GRM7 encodes presynaptic G-protein-coupled glutamate receptor; mutations cause neurodevelopmental disorders with hypomyelination, brain atrophy, and axon outgrowth defects
PMID: 37003303
2
mGluR7 modulates neurotransmitter release and synaptic plasticity; GRM7 variants associated with ASD, ADHD, DD, ID, and brain malformations; both dominant and recessive inheritance patterns cause disease
PMID: 38983774
3
GRM7 is among genes associated with ADHD pathogenesis in children
PMID: 36211978
4
GRM7 SNPs associated with ADHD, bipolar disorder 2, and major depressive disorder
PMID: 31170425
5
GRM7 variants significantly associated with schizophrenia and major depressive disorder in Han Chinese population
PMID: 26655190
6
GRM7 variants influence alcohol-drinking preference and responses to drugs of abuse; involved in emotion, stress, motivated cognition, and defensive behavior
PMID: 40149928
Disease Associationsβ“˜21
neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesOpen Targets
0.79Strong
Global developmental delayOpen Targets
0.45Moderate
Neurodevelopmental disorderOpen Targets
0.37Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
early-infantile DEEOpen Targets
0.37Weak
Brain atrophyOpen Targets
0.35Weak
HypotoniaOpen Targets
0.35Weak
SeizureOpen Targets
0.35Weak
microcephalyOpen Targets
0.34Weak
Bilateral multifocal epileptiform dischargesOpen Targets
0.34Weak
Intellectual disabilityOpen Targets
0.32Weak
CNS hypomyelinationOpen Targets
0.32Weak
placenta praeviaOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.30Weak
smoking initiationOpen Targets
0.28Weak
obesityOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.28Weak
irritable bowel syndromeOpen Targets
0.28Weak
JaundiceOpen Targets
0.28Weak
COVID-19Open Targets
0.28Weak
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesUniProt
Pathogenic Variants10
NM_000844.4(GRM7):c.461T>C (p.Ile154Thr)Pathogenic
Brain atrophy;Global developmental delay;Hypotonia;Hypoplasia of the corpus callosum;Seizure|Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 154
NM_000844.4(GRM7):c.342C>A (p.Tyr114Ter)Pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
β˜…β˜†β˜†β˜†2023β†’ Residue 114
NM_000844.4(GRM7):c.1546C>T (p.Arg516Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 516
NM_000844.4(GRM7):c.1975C>T (p.Arg659Ter)Likely pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 659
NM_000844.4(GRM7):c.2496T>G (p.Ser832Arg)Likely pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
β˜…β˜†β˜†β˜†2022β†’ Residue 832
NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys)Pathogenic
Bilateral multifocal epileptiform discharges;Global developmental delay;Microcephaly
β˜…β˜†β˜†β˜†β†’ Residue 394
NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys)Pathogenic
6 conditions|Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
β˜†β˜†β˜†β˜†2023β†’ Residue 675
NM_000844.4(GRM7):c.1757G>A (p.Trp586Ter)Pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
β˜†β˜†β˜†β˜†2023β†’ Residue 586
NM_000844.4(GRM7):c.2671G>A (p.Glu891Lys)Pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
β˜†β˜†β˜†β˜†2023β†’ Residue 891
NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)Pathogenic
6 conditions|Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
β˜†β˜†β˜†β˜†2023β†’ Residue 658
View on ClinVar β†—
Related Genes
GRIA1Protein interaction100%PICK1Protein interaction90%GRIK2Protein interaction83%GRIK1Protein interaction78%GRIK5Protein interaction78%IQGAP2Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Ovary
5%
Liver
4%
Lung
2%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
GRM7GRIA1PICK1GRIK2GRIK1GRIK5IQGAP2
PROTEIN STRUCTURE
Preparing viewer…
PDB5C5C Β· 1.86 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.55Moderately Constrained
pLIβ“˜
0.37Tolerant
Observed/Expected LoF0.41 [0.30–0.55]
RankingsWhere GRM7 stands among ~20K protein-coding genes
  • #5,481of 20,598
    Most Researched87
  • #2,851of 5,498
    Most Pathogenic Variants10
  • #3,521of 17,882
    Most Constrained (LOEUF)0.55 Β· top quartile
Genes detectedGRM7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
GRM7 gene mutations and consequences for neurodevelopment.
PMID: 37003303
Pharmacol Biochem Behav Β· 2023
1.00
2
GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients.
PMID: 38983774
Brain Behav Immun Health Β· 2024
0.90
3
Attention-deficit/hyperactive disorder updates.
PMID: 36211978
Front Mol Neurosci Β· 2022
0.80
4
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
PMID: 28097321
JAMA Psychiatry Β· 2017
0.70
5
Glutamate receptor metabotropic 7 (GRM7) gene polymorphisms in mood disorders and attention deficit hyperactive disorder.
PMID: 31170425
Neurochem Int Β· 2019
0.60