GRM7 Chromosome 3
Glutamate metabotropic receptor 7
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What This Gene Does
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]
Gene Info
Gene Group
"Glutamate metabotropic receptors|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
3p26.1
Ensembl
ENSG00000196277
Associated Conditions (12)
Inborn genetic diseases
Neurodevelopmental disorder with seizures
hypotonia
and brain imaging abnormalities
Brain atrophy
Global developmental delay
Hypotonia
Hypoplasia of the corpus callosum
Seizure
Bilateral multifocal epileptiform discharges
Microcephaly
6 conditions
Key Variants
RS141283776
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144324520
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS112115852
Likely pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Health Risk
RS1390058794
Likely pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Health Risk
RS1114167298
Pathogenic
Brain atrophy, Global developmental delay, Hypotonia
Health Risk
RS1312633998
Pathogenic
Health Risk
RS1695081736
Pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Health Risk
RS1697820592
Pathogenic
Bilateral multifocal epileptiform discharges, Global developmental delay, Microcephaly
Health Risk
RS2470186445
Pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Health Risk
RS746833089
Pathogenic
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Health Risk
RS1114167300
Pathogenic/Likely pathogenic
6 conditions, Neurodevelopmental disorder with seizures, hypotonia
Health Risk
RS1114167301
Pathogenic/Likely pathogenic
6 conditions, Neurodevelopmental disorder with seizures, hypotonia
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141283776 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144324520 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS112115852 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities |
| RS1390058794 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities |
| RS1114167298 | Health Risk | Pathogenic | Brain atrophy, Global developmental delay, Hypotonia |
| RS1312633998 | Health Risk | Pathogenic | — |
| RS1695081736 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities |
| RS1697820592 | Health Risk | Pathogenic | Bilateral multifocal epileptiform discharges, Global developmental delay, Microcephaly |
| RS2470186445 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities |
| RS746833089 | Health Risk | Pathogenic | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities |
| RS1114167300 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Neurodevelopmental disorder with seizures, hypotonia |
| RS1114167301 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Neurodevelopmental disorder with seizures, hypotonia |