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NUDT2

Chr 9p13.3

nudix hydrolase 2

MANE:
ENST00000379158.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • intellectual developmental disorder with or without peripheral neuropathy

    0.66
  • Intellectual disability

    0.46
  • polyneuropathy

    0.37
  • Global developmental delay

    0.37
  • Hypotonia

    0.37
  • complex neurodevelopmental disorder

    0.27
  • melanoma

    0.07
  • neoplasm

    0.05
  • placenta praevia

    0.04
  • placental retention

    0.04

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

Protein function (UniProt)

Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]

Catalyzes the asymmetric hydrolysis of diadenosine 5',5'''-P1,P4-tetraphosphate (Ap4A) to yield AMP and ATP (By similarity). Exhibits decapping activity towards FAD-capped RNAs and dpCoA-capped RNAs in vitro (By similarity)

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.