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NUP88

Chr 17p13.2

nucleoporin 88

Aliases:
MGC8530
MANE:
ENST00000573584.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

Disease associations (Open Targets)

  • fetal akinesia deformation sequence 1

    0.66
  • HIV infectious disease

    0.54
  • influenza

    0.54
  • viral infectious disease

    0.53
  • fetal akinesia deformation sequence

    0.38
  • COVID-19

    0.37
  • Histiocytosis

    0.37
  • neurodegenerative disease

    0.33
  • Alzheimer disease

    0.32
  • Parkinson disease

    0.31

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

Protein function (UniProt)

Nuclear pore complex protein Nup88

Component of nuclear pore complex

Curated MONDO disease pages that list NUP88 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.