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GRM7

Chr 3p26.1

glutamate metabotropic receptor 7

Aliases:
GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87
MANE:
ENST00000357716.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities

    0.79
  • Global developmental delay

    0.46
  • neurodevelopmental disorder

    0.37
  • early-infantile DEE

    0.37
  • autosomal recessive non-syndromic intellectual disability

    0.37
  • Brain atrophy

    0.35
  • Seizure

    0.35
  • Hypotonia

    0.35
  • microcephaly

    0.34
  • Bilateral multifocal epileptiform discharges

    0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Metabotropic glutamate receptor 7

G protein-coupled receptor activated by glutamate that regulates axon outgrowth through the MAPK-cAMP-PKA signaling pathway during neuronal development (PubMed:33500274). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase that it inhibits (PubMed:9473604)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.