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GenoLensGenoLens

DLG2

Chr 11q14.1

discs large MAGUK scaffold protein 2

Aliases:
PSD-93, PSD93, chapsyn-110, PPP1R58
MANE:
ENST00000376104.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • alcohol drinking

    0.38
  • myopia

    0.33
  • refractive error

    0.32
  • placental abruption

    0.31
  • multiple sclerosis

    0.31
  • poisoning

    0.31
  • placental retention

    0.31
  • urolithiasis

    0.31
  • cardiac arrhythmia

    0.31
  • Abnormal nasolacrimal system morphology

    0.31

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

Protein function (UniProt)

Disks large homolog 2

Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (By similarity)

Curated MONDO disease pages that list DLG2 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.