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NUP93

Chr 16q13

nucleoporin 93

Aliases:
KIAA0095
MANE:
ENST00000308159.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal
  • Unexplained kidney failure in young people

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • nephrotic syndrome, type 12

    0.69
  • familial idiopathic steroid-resistant nephrotic syndrome

    0.60
  • influenza

    0.54
  • HIV infectious disease

    0.54
  • viral infectious disease

    0.53
  • Alzheimer disease

    0.46
  • Parkinson disease

    0.46
  • lysosomal storage disease

    0.46
  • neurodegenerative disease

    0.46
  • multiple sclerosis

    0.46

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

Protein function (UniProt)

Nuclear pore complex protein Nup93

Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:9348540). May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling (PubMed:26878725)

Curated MONDO disease pages that list NUP93 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.