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NME5

Chr 5q31.2

NME/NM23 family member 5

Aliases:
nm23-H5, RSPH23
MANE:
ENST00000265191.4

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • ciliary dyskinesia, primary, 48, without situs inversus

    0.58
  • primary ciliary dyskinesia

    0.39
  • atrial fibrillation

    0.25
  • autoimmune disorder of central nervous system

    0.22
  • spermatogenic failure

    0.06
  • male infertility with azoospermia or oligozoospermia due to single gene mutation

    0.06
  • Young syndrome

    0.05
  • mathematical ability

    0.05
  • congenital factor VII deficiency

    0.05
  • hereditary hemorrhagic telangiectasia

    0.05

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

Protein function (UniProt)

Nucleoside diphosphate kinase 5

Functions as part of axonemal radial spoke complexes, which play an important part in the motility of sperm and cilia (By similarity). In vitro, does not display nucleoside diphosphate kinase (NDPK) activity (Probable) (PubMed:16313181, PubMed:9742940). Exhibits a 3'-5'-DNA exonuclease activity that removes single nucleotides from the 3' terminus of single-stranded DNA substrates and digests overhanging mismatched 3' termini from double-stranded DNA substrates, possibly participating in DNA nucleolytic processing (PubMed:16313181). Confers protection from cell death mediated by BAX and alters the cellular levels of several antioxidant enzymes, including GPX5 (By similarity). Might be involved in spermiogenesis by enhancing the ability of late-stage spermatids to eliminate reactive oxygen species (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.