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GRID2

Chr 4q22.1-q22.2

glutamate ionotropic receptor delta type subunit 2

Aliases:
GluD2, GluR-delta-2
MANE:
ENST00000282020.9
OMIM: 602368 ↗NCBI: 2895 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Hereditary ataxia

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary ataxia with onset in adulthood

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Childhood onset dystonia, chorea or related movement disorder

    BIALLELIC, autosomal or pseudoautosomal

  • Adult onset neurodegenerative disorder

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • autosomal recessive spinocerebellar ataxia 18

    0.78

  • Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

    0.74

  • hereditary disease

    0.47

  • Progressive cerebellar ataxia

    0.46

  • neurodegenerative disease

    0.45

  • diabetes mellitus

    0.35

  • facial pain

    0.34

  • obesity disorder

    0.32

  • dementia

    0.31

  • eye disorder

    0.29

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

Protein function (UniProt)

Glutamate receptor ionotropic, delta-2

Member of the ionotropic glutamate receptor family, which plays a crucial role in synaptic organization and signal transduction in the central nervous system (PubMed:34936451, PubMed:27418511, PubMed:40957579). Although it shares structural features with ionotropic glutamate receptors, does not bind glutamate as a primary ligand (PubMed:34936451). Promotes synaptogenesis and mediates the D-serine-dependent long term depression signals and AMPA receptor endocytosis of cerebellar parallel fiber-Purkinje cell (PF-PC) synapses through the NRX1B-CBLN1-GRID2 triad complex (PubMed:27418511). In the presence of neurexins and cerebellins, forms cation-selective channels that are proposed to be gated by glycine and D-serine (PubMed:34936451). Cation-selective ion channel activity can be triggered by GRM1 in Purkinje cells (PubMed:24357660, PubMed:27276689)

Diseases associated with GRID2

Curated MONDO disease pages that list GRID2 among their top associated genes.

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.