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DPYSL2

Chr 8p21.2

dihydropyrimidinase like 2

Aliases:
DRP-2, DHPRP2, CRMP2, DRP2
MANE:
ENST00000521913.7

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • hypertensive disorder

    0.43
  • autosomal dominant non-syndromic intellectual disability

    0.37
  • ovarian neoplasm

    0.30
  • glomerulonephritis

    0.29
  • cardiovascular disorder

    0.29
  • hereditary disease

    0.27
  • metabolic disease

    0.26
  • placental abruption

    0.26
  • Intellectual disability

    0.19
  • Aplasia/Hypoplasia of the corpus callosum

    0.18

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

Protein function (UniProt)

Dihydropyrimidinase-related protein 2

Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. May play a role in endocytosis

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.